Jaques Waisberg
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Previous Organizations / Institutes
The organizations / institutes from the scholar's other articles in the past ten years
Research Subjects
Jaques Waisberg has a total of 334 co-authors. Here are the top co-authors by number of shared publications:
- Daniel Reis Waisberg
Liver and Abdominal Organs Transplantation Division, Department of Gastroenterology, Hospital das Clínicas da Faculdade de Medicina de São Paulo (HC-FMUSP), São Paulo, Brazil
7 shared publications - Marcelo Augusto Fontenelle Ribeiro Junior
Department of Surgery, R Adams Cowley Shock Trauma Center, University of Maryland, Baltimore, MD 21201, USA
7 shared publications Maria Isete Fares Franco
Hospital do Servidor Público Estadual, Brazil
6 shared publicationsRogério Tadeu Palma
Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", São Paulo, SP, Brazil
6 shared publications- Leandro Luongo Matos
Head and Neck Surgery, Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Universidade de São Paulo (Icesp HCFMUSP). Professor, Surgery, Faculdade Israelita de Ciências da Saúde Albert Einstein, São Paulo, Brazil
5 shared publications Lourdes Conceição Martins
FMABC, Brasil
5 shared publications
Latest Publications
- Open Access
- 2 August 2026
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 15 (15) , 6003
Effectiveness of Platelet-Rich Plasma Combined with Split-Thickness Skin Grafts for Skin Defects: A Systematic Review and Meta-Analysis
Background/Objectives: Platelet-rich plasma (PRP) has been proposed as an adjunct to split-thickness skin grafting (STSG) to enhance graft adherence and reduce complications. However, evidence remains heterogeneous. This study evaluated the effectiveness of PRP combined with STSG compared with STSG alone. Methods: A systematic review and meta-analysis was conducted following PRISMA guidelines. Databases and trial registries were searched for randomized controlled trials and comparative observational studies. Ten studies were included. The primary outcome was skin graft take. Secondary outcomes were wound healing time, graft loss, and hematoma incidence. Random-effects models were used. Risk of bias was assessed with RoB 2 and ROBINS-I, and certainty of evidence with GRADE. Results: Ten studies (7 randomized controlled trials and 3 observational studies) were included. PRP improved graft take (mean difference 9.93%; 95% CI: 4.70–15.17; p = 0.0002; I2 = 75%), with a larger effect in patient-level analyses (14.78; 95% CI: 10.97–18.59; p < 0.00001; I2 = 0%). Healing time could not be pooled. Hematoma incidence was reduced (risk ratio 0.26; 95% CI: 0.14–0.48; p < 0.0001; I2 = 0%). Graft loss was reduced in parallel-group trials (risk ratio 0.26; 95% CI: 0.11–0.58; p = 0.001; I2 = 0%) but not in sensitivity analysis (risk ratio 0.35; 95% CI: 0.10–1.19; p = 0.09; I2 = 73%). Evidence certainty was low to very low. Conclusions: PRP may improve graft take and reduce hematoma after STSG, but effects on graft loss and healing time remain uncertain.
- 2 August 2026
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 15 (15) , 6003
Open AccessEffectiveness of Platelet-Rich Plasma Combined with Split-Thickness Skin Grafts for Skin Defects: A Systematic Review and Meta-Analysis
Background/Objectives: Platelet-rich plasma (PRP) has been proposed as an adjunct to split-thickness skin grafting (STSG) to enhance graft adherence and reduce complications. However, evidence remains heterogeneous. This study evaluated the effectiveness of PRP combined with STSG compared with STSG alone. Methods: A systematic review and meta-analysis was conducted following PRISMA guidelines. Databases and trial registries were searched for randomized controlled trials and comparative observational studies. Ten studies were included. The primary outcome was skin graft take. Secondary outcomes were wound healing time, graft loss, and hematoma incidence. Random-effects models were used. Risk of bias was assessed with RoB 2 and ROBINS-I, and certainty of evidence with GRADE. Results: Ten studies (7 randomized controlled trials and 3 observational studies) were included. PRP improved graft take (mean difference 9.93%; 95% CI: 4.70–15.17; p = 0.0002; I2 = 75%), with a larger effect in patient-level analyses (14.78; 95% CI: 10.97–18.59; p < 0.00001; I2 = 0%). Healing time could not be pooled. Hematoma incidence was reduced (risk ratio 0.26; 95% CI: 0.14–0.48; p < 0.0001; I2 = 0%). Graft loss was reduced in parallel-group trials (risk ratio 0.26; 95% CI: 0.11–0.58; p = 0.001; I2 = 0%) but not in sensitivity analysis (risk ratio 0.35; 95% CI: 0.10–1.19; p = 0.09; I2 = 73%). Evidence certainty was low to very low. Conclusions: PRP may improve graft take and reduce hematoma after STSG, but effects on graft loss and healing time remain uncertain.
- Open Access
- 28 May 2026
- Published by Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein in Einstein (São Paulo)
- Vol. 26, eAO2153
Immunoexpression of stem cell markers CD44, CD133, ALDH1-2, and LGR5 in colorectal carcinoma and their association with clinicopathological tumor characteristics
To investigate the association of CD44, CD133, ALDH1-2, and LGR5 expression with clinicopathological tumor variables. Twenty-eight adult patients with colorectal carcinoma who underwent curative surgery were included in the study. Paraffin-embedded samples were subjected to immunohistochemical staining with anti-CD44, anti-CD133, anti-ADLH1-2, and anti-LGR5 antibodies, and the results were compared with the patients' clinicopathological variables. P-values 60 years of age, in the rectum and right colon, and in the presence of lymph node involvement. CD44 protein expression was increased in tumors of the left colon. Increased tissue levels of ALDH1-2 and LGR5 were related to increased aggressiveness of colorectal carcinoma.
- 28 May 2026
- Published by Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein in Einstein (São Paulo)
- Vol. 26, eAO2153
Open AccessImmunoexpression of stem cell markers CD44, CD133, ALDH1-2, and LGR5 in colorectal carcinoma and their association with clinicopathological tumor characteristics
To investigate the association of CD44, CD133, ALDH1-2, and LGR5 expression with clinicopathological tumor variables. Twenty-eight adult patients with colorectal carcinoma who underwent curative surgery were included in the study. Paraffin-embedded samples were subjected to immunohistochemical staining with anti-CD44, anti-CD133, anti-ADLH1-2, and anti-LGR5 antibodies, and the results were compared with the patients' clinicopathological variables. P-values 60 years of age, in the rectum and right colon, and in the presence of lymph node involvement. CD44 protein expression was increased in tumors of the left colon. Increased tissue levels of ALDH1-2 and LGR5 were related to increased aggressiveness of colorectal carcinoma.
- Open Access
- 10 February 2026
- Published by Springer Nature in Scientific Reports
- Vol. 16 (1)
International survey on the management of colorectal trauma and alignment with current guidelines
Colorectal trauma management remains variable worldwide. This study evaluated contemporary practice patterns using an anatomically stratified international survey. An anonymous, electronic survey assessing contemporary colorectal trauma management was distributed internationally through social media platforms and professional surgical societies to capture current practice patterns and variations in clinical decision-making. A total of 280 surgeons from 59 countries responded. For hemodynamically stable intraperitoneal colorectal injuries, 196/280 (70.00%) selected resection, when indicated, with primary repair or anastomosis, and routine colostomy was avoided by 227/280 (81.07%). Routine colostomy use differed by professional training (p = 0.018), with higher rates among general surgery residents (13/31, 41.94%) compared with attending trauma surgeons (17/107, 15.89%) and attending colorectal surgeons (5/42, 11.90%). Differences were also observed by hospital type (p = 0.037), with higher use in non-academic public general hospitals (10/35, 28.57%) and no routine use in Level II trauma centers (0/18, 0.00%). In hemodynamically unstable intraperitoneal colorectal injuries, colostomy was reported by 148/280 (52.86%). Colostomy reversal was most commonly scheduled between 3 and 6 months (146/280, 52.14%), without differences by training level or hospital type. Reported management of hemodynamically stable intraperitoneal colorectal injuries is predominantly colostomy-sparing, whereas reported approaches for unstable intraperitoneal injuries show mixed diversion practices. Differences by professional training and hospital type suggest persistent variability in contemporary colorectal trauma decision-making.
- 10 February 2026
- Published by Springer Nature in Scientific Reports
- Vol. 16 (1)
Open AccessInternational survey on the management of colorectal trauma and alignment with current guidelines
Colorectal trauma management remains variable worldwide. This study evaluated contemporary practice patterns using an anatomically stratified international survey. An anonymous, electronic survey assessing contemporary colorectal trauma management was distributed internationally through social media platforms and professional surgical societies to capture current practice patterns and variations in clinical decision-making. A total of 280 surgeons from 59 countries responded. For hemodynamically stable intraperitoneal colorectal injuries, 196/280 (70.00%) selected resection, when indicated, with primary repair or anastomosis, and routine colostomy was avoided by 227/280 (81.07%). Routine colostomy use differed by professional training (p = 0.018), with higher rates among general surgery residents (13/31, 41.94%) compared with attending trauma surgeons (17/107, 15.89%) and attending colorectal surgeons (5/42, 11.90%). Differences were also observed by hospital type (p = 0.037), with higher use in non-academic public general hospitals (10/35, 28.57%) and no routine use in Level II trauma centers (0/18, 0.00%). In hemodynamically unstable intraperitoneal colorectal injuries, colostomy was reported by 148/280 (52.86%). Colostomy reversal was most commonly scheduled between 3 and 6 months (146/280, 52.14%), without differences by training level or hospital type. Reported management of hemodynamically stable intraperitoneal colorectal injuries is predominantly colostomy-sparing, whereas reported approaches for unstable intraperitoneal injuries show mixed diversion practices. Differences by professional training and hospital type suggest persistent variability in contemporary colorectal trauma decision-making.
- Open Access
- 1 January 2025
- Published by FapUNIFESP (SciELO) in Acta Cirurgica Brasileira
- Vol. 40, e401125
Analysis of clinical and pathological prognostic factors of survival in rectal adenocarcinoma treated with preoperative radiochemotherapy
Purpose: To identify the prognostic variables related to the survival of patients operated on for adenocarcinoma of the rectum who underwent preoperative radiochemotherapy (RCT).
- 1 January 2025
- Published by FapUNIFESP (SciELO) in Acta Cirurgica Brasileira
- Vol. 40, e401125
Open AccessAnalysis of clinical and pathological prognostic factors of survival in rectal adenocarcinoma treated with preoperative radiochemotherapy
Purpose: To identify the prognostic variables related to the survival of patients operated on for adenocarcinoma of the rectum who underwent preoperative radiochemotherapy (RCT).
- Open Access
- 19 December 2024
- Published by MDPI AG in Biomolecules
- Vol. 14 (12) , 1633
The Influence of Bariatric Surgery on Matrix Metalloproteinase Plasma Levels in Patients with Type 2 Diabetes Mellitus
Background: Bariatric surgery is a safe and effective procedure for treating obesity and metabolic conditions such as type 2 diabetes mellitus (T2DM). Remodeling of the extracellular matrix (ECM) supports adipose tissue expansion and its metabolic activity, where matrix metalloproteinases (MMPs) play a key role in ECM regulation. The MMPs, particularly MMP-2 and MMP-9, are elevated in patients with morbid obesity, metabolic syndrome, and T2DM. Objectives: To evaluate the effect of weight loss in bariatric surgery patients using oxidative stress markers and to compare MMP levels in patients undergoing bariatric surgery. Methods: This was a prospective, controlled study including 45 morbidly obese patients with T2DM (BMI > 35 kg/m2) who underwent RYGB (n = 24) or VG (n = 21). Weight loss was assessed through anthropometric measurements (weight, height, BMI). MMP-2 and MMP-9 levels were measured preoperatively and at 3 and 12 months postoperatively. Results: Significant and sustained weight loss was observed after surgery in both groups, with reductions in BMI. MMP-2 and MMP-9 levels decreased significantly after one year of follow-up. Conclusions: Bariatric surgery is an effective long-term intervention for weight loss and associated comorbidities, including T2DM. MMP-2 and MMP-9 proved to be effective markers of extracellular matrix remodeling, with significant reductions following surgery.
- 19 December 2024
- Published by MDPI AG in Biomolecules
- Vol. 14 (12) , 1633
Open AccessThe Influence of Bariatric Surgery on Matrix Metalloproteinase Plasma Levels in Patients with Type 2 Diabetes Mellitus
Background: Bariatric surgery is a safe and effective procedure for treating obesity and metabolic conditions such as type 2 diabetes mellitus (T2DM). Remodeling of the extracellular matrix (ECM) supports adipose tissue expansion and its metabolic activity, where matrix metalloproteinases (MMPs) play a key role in ECM regulation. The MMPs, particularly MMP-2 and MMP-9, are elevated in patients with morbid obesity, metabolic syndrome, and T2DM. Objectives: To evaluate the effect of weight loss in bariatric surgery patients using oxidative stress markers and to compare MMP levels in patients undergoing bariatric surgery. Methods: This was a prospective, controlled study including 45 morbidly obese patients with T2DM (BMI > 35 kg/m2) who underwent RYGB (n = 24) or VG (n = 21). Weight loss was assessed through anthropometric measurements (weight, height, BMI). MMP-2 and MMP-9 levels were measured preoperatively and at 3 and 12 months postoperatively. Results: Significant and sustained weight loss was observed after surgery in both groups, with reductions in BMI. MMP-2 and MMP-9 levels decreased significantly after one year of follow-up. Conclusions: Bariatric surgery is an effective long-term intervention for weight loss and associated comorbidities, including T2DM. MMP-2 and MMP-9 proved to be effective markers of extracellular matrix remodeling, with significant reductions following surgery.
- Open Access
- 13 November 2024
- Published by Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein in Einstein (São Paulo)
- Vol. 22, eRW0596
Liver-first approach to the treatment of patients with synchronous colorectal liver metastases: a systematic review and meta-analysis
Objective The optimal approach to the treatment of colorectal carcinoma and synchronous liver metastases remains controversial. The objective of this review was to analyze the outcomes of adopting the liver-first approach for the treatment of patients with colorectal cancer with synchronous hepatic metastases who initially underwent systemic chemotherapy and/or resection of the metastatic lesions and primary colorectal carcinoma. Methods This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The MEDLINE, EMBASE,
- 13 November 2024
- Published by Sociedade Beneficente Israelita Brasileira Hospital Albert Einstein in Einstein (São Paulo)
- Vol. 22, eRW0596
Open AccessLiver-first approach to the treatment of patients with synchronous colorectal liver metastases: a systematic review and meta-analysis
Objective The optimal approach to the treatment of colorectal carcinoma and synchronous liver metastases remains controversial. The objective of this review was to analyze the outcomes of adopting the liver-first approach for the treatment of patients with colorectal cancer with synchronous hepatic metastases who initially underwent systemic chemotherapy and/or resection of the metastatic lesions and primary colorectal carcinoma. Methods This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The MEDLINE, EMBASE,
- Open Access
- 30 October 2024
- Published by MDPI AG in Preprints.org
The Influence of Bariatric Surgery on Matrix Metalloproteinase Plasma Levels in Patients with Type 2 Diabetes Mellitus
Background: Bariatric surgery is a safe and effective procedure for treating obesity and metabolic conditions such as type 2 diabetes mellitus (T2DM). Remodeling of the extracellular matrix (ECM) supports adipose tissue expansion and its metabolic activity, where matrix metalloproteinases (MMPs) play a key role in ECM regulation. The substrates of MMPs, particularly MMP-2 and MMP-9, are elevated in patients with morbid obesity, metabolic syndrome, and T2DM. Objectives: To evaluate the effect of weight loss in bariatric surgery patients using oxidative stress markers and to compare MMP levels in patients undergoing Roux-en-Y gastric bypass (RYGB) and vertical gastrectomy (VG). Methods: This was a prospective, controlled study including 45 morbidly obese patients with T2DM (BMI > 35 kg/m²) who underwent RYGB (n=24) or VG (n=21). Weight loss was assessed through anthropometric measurements (weight, height, BMI). MMP-2 and MMP-9 levels were measured preoperatively and at 3 and 12 months postoperatively. Results: Significant and sustained weight loss was observed after surgery in both groups, with reductions in BMI. MMP-2 and MMP-9 levels decreased significantly after one year of follow-up. Conclusions: Bariatric surgery is an effective long-term intervention for weight loss and associated comorbidities, including T2DM. MMP-2 and MMP-9 proved to be effective inflammatory markers, with significant reductions following surgery.
- 30 October 2024
- Published by MDPI AG in Preprints.org
Open AccessThe Influence of Bariatric Surgery on Matrix Metalloproteinase Plasma Levels in Patients with Type 2 Diabetes Mellitus
Background: Bariatric surgery is a safe and effective procedure for treating obesity and metabolic conditions such as type 2 diabetes mellitus (T2DM). Remodeling of the extracellular matrix (ECM) supports adipose tissue expansion and its metabolic activity, where matrix metalloproteinases (MMPs) play a key role in ECM regulation. The substrates of MMPs, particularly MMP-2 and MMP-9, are elevated in patients with morbid obesity, metabolic syndrome, and T2DM. Objectives: To evaluate the effect of weight loss in bariatric surgery patients using oxidative stress markers and to compare MMP levels in patients undergoing Roux-en-Y gastric bypass (RYGB) and vertical gastrectomy (VG). Methods: This was a prospective, controlled study including 45 morbidly obese patients with T2DM (BMI > 35 kg/m²) who underwent RYGB (n=24) or VG (n=21). Weight loss was assessed through anthropometric measurements (weight, height, BMI). MMP-2 and MMP-9 levels were measured preoperatively and at 3 and 12 months postoperatively. Results: Significant and sustained weight loss was observed after surgery in both groups, with reductions in BMI. MMP-2 and MMP-9 levels decreased significantly after one year of follow-up. Conclusions: Bariatric surgery is an effective long-term intervention for weight loss and associated comorbidities, including T2DM. MMP-2 and MMP-9 proved to be effective inflammatory markers, with significant reductions following surgery.
- Open Access
Obesity and Colorectal Cancer: A Narrative Review
Background and Objectives: Cancer is a multicausal disease, and environmental, cultural, socioeconomic, lifestyle, and genetic factors can influence the risk of developing cancer. Colorectal cancer (CRC) stands as the third most common cancer globally. Some countries have observed a rise in the incidence of CRC, especially among young people. This increase is associated with lifestyle changes over the last few decades, including changes in diet patterns, a sedentary lifestyle, and obesity. Currently, obesity and overweight account for approximately 39% of the world’s population and increase the risk of overall mortality of certain cancer types. This study aims to conduct a literature review examining the association between obesity and CRC. Materials and Methods: This narrative review explored the pathophysiological mechanisms, treatment strategies, and challenges related to obesity and CRC. Results: Several studies have established a clear causal relationship between obesity and CRC, showing that individuals with morbid obesity are at a higher risk of developing colorectal cancer. The adipose tissue, particularly the visceral, secretes proinflammatory cytokines, such as TNF-alpha, interleukin-6, and C-reactive protein. Chronic inflammation is closely linked to cancer initiation and progression, with a complex interplay of molecular mechanisms underlying this association. Obesity can complicate the treatment of CRC due to several factors, reducing the therapeutic effectiveness and increasing the risk for adverse events during treatment. Dietary modification, calorie restriction, and other types of weight-control strategies can reduce the risk of CRC development and improve treatment outcomes. Conclusions: Obesity is intricately linked to CRC development and progression, making it a crucial target for intervention, whether through diet therapy, physical exercises, medical therapy, or bariatric surgery.
Open AccessObesity and Colorectal Cancer: A Narrative Review
Background and Objectives: Cancer is a multicausal disease, and environmental, cultural, socioeconomic, lifestyle, and genetic factors can influence the risk of developing cancer. Colorectal cancer (CRC) stands as the third most common cancer globally. Some countries have observed a rise in the incidence of CRC, especially among young people. This increase is associated with lifestyle changes over the last few decades, including changes in diet patterns, a sedentary lifestyle, and obesity. Currently, obesity and overweight account for approximately 39% of the world’s population and increase the risk of overall mortality of certain cancer types. This study aims to conduct a literature review examining the association between obesity and CRC. Materials and Methods: This narrative review explored the pathophysiological mechanisms, treatment strategies, and challenges related to obesity and CRC. Results: Several studies have established a clear causal relationship between obesity and CRC, showing that individuals with morbid obesity are at a higher risk of developing colorectal cancer. The adipose tissue, particularly the visceral, secretes proinflammatory cytokines, such as TNF-alpha, interleukin-6, and C-reactive protein. Chronic inflammation is closely linked to cancer initiation and progression, with a complex interplay of molecular mechanisms underlying this association. Obesity can complicate the treatment of CRC due to several factors, reducing the therapeutic effectiveness and increasing the risk for adverse events during treatment. Dietary modification, calorie restriction, and other types of weight-control strategies can reduce the risk of CRC development and improve treatment outcomes. Conclusions: Obesity is intricately linked to CRC development and progression, making it a crucial target for intervention, whether through diet therapy, physical exercises, medical therapy, or bariatric surgery.
- Top Cited PapersOpen Access
- 20 June 2024
- Published by Springer Nature in Hernia
- Vol. 28 (4) , 1467-1476
Lichtenstein technique for inguinal hernia repair: ten recommendations to optimize surgical outcomes
Purpose: Approximately 20 million individuals worldwide undergo inguinal hernia surgery annually. The Lichtenstein technique is the most commonly used surgical procedure in this setting. The objective of this study was to revisit this technique and present ten recommendations based on the best practices. Methods: PubMed and Scientific Electronic Library Online were used to systematically search for articles about the Lichtenstein technique and its modifications. Literature regarding this technique and surgical strategies to prevent chronic pain were the basis for formulating ten recommendations for best practices during Lichtenstein surgery. Results: Ten recommendations were proposed based on best practices in the Lichtenstein technique: neuroanatomical assessment, chronic pain prevention, pragmatic neurectomy, spermatic cord structure management, femoral canal assessment, hernia sac management, mesh characteristics, fixation, recurrence prevention, and surgical convalescence. Conclusion: The ten recommendations are practical ways to achieve a safe and successful procedure. We fell that following these recommendations can improve surgical outcomes using the Lichtenstein technique.
- 20 June 2024
- Published by Springer Nature in Hernia
- Vol. 28 (4) , 1467-1476
Top Cited PapersOpen AccessLichtenstein technique for inguinal hernia repair: ten recommendations to optimize surgical outcomes
Purpose: Approximately 20 million individuals worldwide undergo inguinal hernia surgery annually. The Lichtenstein technique is the most commonly used surgical procedure in this setting. The objective of this study was to revisit this technique and present ten recommendations based on the best practices. Methods: PubMed and Scientific Electronic Library Online were used to systematically search for articles about the Lichtenstein technique and its modifications. Literature regarding this technique and surgical strategies to prevent chronic pain were the basis for formulating ten recommendations for best practices during Lichtenstein surgery. Results: Ten recommendations were proposed based on best practices in the Lichtenstein technique: neuroanatomical assessment, chronic pain prevention, pragmatic neurectomy, spermatic cord structure management, femoral canal assessment, hernia sac management, mesh characteristics, fixation, recurrence prevention, and surgical convalescence. Conclusion: The ten recommendations are practical ways to achieve a safe and successful procedure. We fell that following these recommendations can improve surgical outcomes using the Lichtenstein technique.
- Open Access
- 5 March 2024
- Published by Springer Nature in BMC Research Notes
- Vol. 17 (1) , 1-7
Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service
Objectives: Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed to conduct a cytogenetic investigation of numerical and structural rearrangements and a genomic study of Y chromosome microdeletions/microduplications in infertile men derived from a single centre with over 14 years of experience. Results: We evaluated 151 infertile men in a transversal study using peripheral blood karyotypes and 15 patients with normal karyotypes through genomic investigation by multiplex ligation-dependent probe amplification (MLPA) or polymerase chain reaction of sequence-tagged sites (PCR-STS) techniques. Out of the 151 patients evaluated by karyotype, 13 presented chromosomal abnormalities: two had numerical alterations, and 11 had structural chromosomal rearrangements. PCR-STS detected a BPY2 gene region and RBMY2DP pseudogene region microdeletion in one patient. MLPA analysis allowed the identification of one patient with CDY2B_1 and CDY2B_2 probe duplications (CDY2B and NLGN4Y genes) and one patient with BPY2_1, BPY2_2, and BPY2_4 probe duplications (PRY and RBMY1J genes).
- 5 March 2024
- Published by Springer Nature in BMC Research Notes
- Vol. 17 (1) , 1-7
Open AccessCytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service
Objectives: Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed to conduct a cytogenetic investigation of numerical and structural rearrangements and a genomic study of Y chromosome microdeletions/microduplications in infertile men derived from a single centre with over 14 years of experience. Results: We evaluated 151 infertile men in a transversal study using peripheral blood karyotypes and 15 patients with normal karyotypes through genomic investigation by multiplex ligation-dependent probe amplification (MLPA) or polymerase chain reaction of sequence-tagged sites (PCR-STS) techniques. Out of the 151 patients evaluated by karyotype, 13 presented chromosomal abnormalities: two had numerical alterations, and 11 had structural chromosomal rearrangements. PCR-STS detected a BPY2 gene region and RBMY2DP pseudogene region microdeletion in one patient. MLPA analysis allowed the identification of one patient with CDY2B_1 and CDY2B_2 probe duplications (CDY2B and NLGN4Y genes) and one patient with BPY2_1, BPY2_2, and BPY2_4 probe duplications (PRY and RBMY1J genes).