Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.

BACKGROUND AND AIMS: X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families. METHODS: We conducted comprehensive clinical assessments, extensive electrophysiological evaluations, and performed whole-exome sequencing in the probands to investigate the genetic basis of the disease. RESULTS: Males in the family carrying the Arg162His mutation displayed early-onset motor and/or sensory axonal neuropathy, absence of tendon jerks, pes cavus, and frequently reported pain. Females in the same family exhibited a milder phenotype of the disease with later onset and some remained asymptomatic into their 50s. In the unrelated family with a single affected male, the clinical presentation was characterized by severe progressive sensorimotor polyneuropathy accompanied by neuropathic pain. INTERPRETATION: We report two Brazilian families with CMTX6 including one harboring a previously unpublished variant in the PDK3 gene, which co-segregates with the disease as expected in a X-linked disease. Notably, the clinical presentations across the five families with available descriptions, including our study, share striking similarities. Furthermore, the proximity of the three reported mutations suggests potential functional similarities and common underlying mechanisms. This study contributes to the growing knowledge of CMTX6 and underscores the importance of international collaborations in studying rare genetic disorders.

Success rates and outcomes of the robotic NICE procedure across complicated and uncomplicated diverticulitis cases.

INTRODUCTION: We implemented the NICE procedure as a robotic natural orifice colorectal resection utilizing the rectum to extract the specimen and complete an intracorporal anastomosis for diverticulitis in 2018. Although complicated diverticulitis is associated with higher rates of conversion and post-operative morbidity, we hypothesized that the stepwise approach of the NICE procedure can be equally successful in this cohort. We aimed to compare feasibility and outcomes of the NICE procedure for uncomplicated and complicated diverticulitis. METHODS: Consecutive patients presenting with diverticulitis who underwent robotic NICE procedure from May 2018 through June 2021 were included. Cases were stratified into uncomplicated and complicated diverticulitis (fistula, abscess, or stricture). Demographic, clinical, disease, intervention, and outcomes data were analyzed. The main outcome measures were return of bowel function, length of stay, opioid consumption, and postoperative complications. RESULTS: Of a total of 190 patients, those presenting with uncomplicated diverticulitis (53.2%) were compared to those with complicated diverticulitis (47.8%). Uncomplicated diverticulitis had fewer low anterior resections (15.8% vs 49.4%; p < 0.001) and shorter median operative time (186 vs 220 min; p < 0.001). Both cohorts had equal rates of successful intracorporeal anastomosis (100%) and successful transrectal extraction (100% vs 98.9%; p = 0.285). Both cohorts had similar return of bowel function (median 21 h and 18.5; p = 0.149), median length of hospital stay (2 days, p = 0.015) and mean total opioid use (68.4 MME vs 67.3; p = 0.91). There were also no significant differences in overall postoperative complication rate over a 30-day time period (8.9% vs 12.5%; p = 0.44), readmission (6.9% vs 5.6%; p = 0.578) and reoperation (3% vs 4.5%; p = 0.578). CONCLUSION: Despite being inherently more complex and technically challenging, complicated diverticulitis patients have similar success rates and post-operative outcomes compared to uncomplicated diverticulitis patients when undergoing the NICE procedure. These results implicate the benefits of robotic natural orifice techniques may be even more pronounced in complicated diverticulitis patients.

Complications of laparoscopic transgastric ERCP in patients with Roux-en-Y gastric bypass.

BACKGROUND: The altered anatomy of Roux-en-Y gastric bypass presents a challenge when duodenal access is required for ERCP. One technique, laparoscopic transgastric ERCP, was first described in 2002. Since that time, a total of 77 laparoscopic or percutaneous transgastric ERCPs have been reported. The largest case series includes 26 ERCPs, and no reports specifically address complications. We reviewed our experience with 85 transgastric ERCPs and report the limitations and complications associated with access and ERCP. METHODS: Retrospective review was conducted of gastric bypass patients who underwent transgastric ERCP in our practice from 2004-2014. RESULTS: Forty-one patients underwent 85 transgastric ERCPs during the study period. Conversion from laparoscopic to open procedure occurred in 4.8%, and selective cannulation rate was 93%. Forty-seven percent of cases were repeat ERCPs performed through a gastrostomy tube tract. During 15-month median follow-up, the overall complication rate was 19%, with 88% of complications related to access rather than ERCP. Most complications were minor; there were no deaths or cases of severe pancreatitis. Additional intervention, including repair of a posterior stomach laceration or transfusion for bleeding, occurred in 4.7% of cases. Operative intervention occurred in two cases: repair of a duodenal perforation, and debridement of an abdominal wall abscess. Post-ERCP hyperamylasemia was common but did not result in increased length of stay or significant clinical pancreatitis. CONCLUSIONS: Roux-en-Y gastric bypass eliminates the normal approach to the duodenum for ERCP. Transgastric access has a high rate of successful cannulation but is associated with complications. Conversion to open procedure occurred in 4.8%, and 16% developed a complication related to the access site, though the rate of operative intervention was low (2.4%). Our study is limited by its retrospective design, which may underestimate the complication rate, and by our homogenous patient population (94% female, 68% sphincter of Oddi dysfunction).

[Prevalence of cardiovascular risk factors in an urban ambulatory adult population: AsuRiesgo study, Paraguay]. / Prevalencia de factores de riesgo cardiovascular en una población adulta ambulatoria urbana: estudio AsuRiesgo, Paraguay.

OBJECTIVE: Cardiovascular diseases are the leading cause of mortality in the world. Although most of them are preventable, their prevalence continues to increase. The objective of this study was to estimate the prevalence of cardiovascular risk factors in an urban ambulatory adult hospital population in Asunción, Paraguay. METHODS: A cross-sectional study was undertaken in the population of patients enrolled in the AsuRiesgo prospective study on the prevention of cardiovascular disease, which focuses on promoting a healthy lifestyle. Patients 18 years of age or older who were encountered in doctors' waiting rooms in a tertiary care hospital were invited to participate. Each patient's clinical history, body measurements, and laboratory test results were obtained. RESULTS: A total of 18 287 patients aged 51 ± 16 years were recruited. Of this group, 67.5% were female, with an average bodyweight of 77.5 ± 16.2 kg and a body mass index 29.7 ± 5.9 kg/m². The prevalence rates of a history of myocardial infarction, stroke, diabetes mellitus, and hypertension were 2.6%, 3%, 13.3%, and 53%, respectively, and the rates of smoking, unhealthy diet, sedentary lifestyle, and psychological stress were 29.3%, 41.2%, 58.2%, and 56.6%. The overall prevalence of obesity and overweight was 79.6%; the rates of prehypertension and systemic hypertension were 39% and 25%, respectively; and the prevalence of metabolic syndrome was 34.7%. CONCLUSIONS: Although the prevalence rates of smoking, systemic hypertension, and diabetes mellitus were low, those for obesity, sedentary lifestyle, psychological stress, unhealthy diet, and metabolic syndrome were very high. This finding demonstrates the need for global action to prevent disability and death from ischemic heart and cerebrovascular disease. It is urgent to implement programs to address these challenges on a national scale.

Self-expanding metallic stents for palliation and as a bridge to minimally invasive surgery in colorectal obstruction.

BACKGROUND AND OBJECTIVES: Acute colorectal obstruction is a potentially life-threatening emergency that requires immediate surgical treatment. Emergency procedures had an associated mortality rate of 10% to 30%. This encouraged development of other options, most notably self-expanding metallic stents. The primary endpoint of this study to is to report our group's experience. METHODS: We performed a retrospective review of 37 patients who underwent self-expanding metallic stent placement for colorectal obstruction between July 2000 and May 2012. Data collected were age, comorbidities, diagnosis, intent of intervention (palliative vs bridge to surgery), complications, and follow-up. RESULTS: The study comprised 21 men (56.76%) and 16 women (43.24%), with a mean age of 67 years. The intent of the procedure was definitive treatment in 22 patients (59.46%) and bridge to surgery in 15 (40.54%). The highest technical success rate was at the rectosigmoid junction (100%). The causes of technical failure were inability of the guidewire to traverse the stricture and bowel perforation related to stenting. The mean follow-up period was 9.67 months. Pain and constipation were the most common postprocedure complications. DISCUSSION: The use of a self-expanding metallic stent has been shown to be effective for palliation of malignant obstruction. It is associated with a lower incidence of intensive care unit admission, shorter hospital stay, lower stoma rate, and earlier chemotherapy administration. Laparoscopic or robotic surgery can then be performed in an elective setting on a prepared bowel. Therefore the patient benefits from advantages of the combination of 2 minimally invasive procedures in a nonemergent situation. Further large-scale prospective studies are necessary.

Robotic retro-rectus repair of parastomal hernias.

OBJECTIVE: To present our technique of robotic retrorectus parastomal hernia repair. BACKGROUND: Parastomal hernias represent a significant problem with high recurrence and long-term complications. An estimated of 120,000 new stomas are created per year with a prevalence of up to 800,000 patients in the U.S. 40-60% of these ostomies will never be reversed. Parastomal hernias cause skin breakdown and make adherence of ostomy appliances difficult, creating the need for frequent bag exchanges. They can also cause pain, bowel obstruction and bowel incarceration or strangulation. All of these factors affect quality of life and represent a significant burden to our health care system. There is no definitive gold-standard technique to repair parastomal hernias. The use of prosthesis decreases the recurrence rates, yet using prosthetic material can result in long-term complications. Surgeons have developed techniques of pre-peritoneal mesh placement to provide long-lasting repairs and at the same time prevent complications associated with the mesh. We believe that a robotic retro-rectus approach provides a secure repair and avoids leaving prosthetic material in the abdominal cavity at the same time. METHODS: A three-arm technique is used, inserting ports opposite to the target anatomy. Hernia contents are reduced protecting the ostomy loop and mesentery. The contralateral retro-rectus space is entered and this space is developed extensively across the midline and around the ostomy. The hernia defect is approximated. Concomitant ventral hernias are also repaired. A polypropylene mesh with a keyhole is used and wide coverage is ensured in all directions. The leaflets of the mesh are stitched together and the mesh is sutured to the abdominal wall. Finally, the retro-rectus space is closed. RESULTS: We have performed this technique in two patients safely and at 1-year follow-up there were no recurrences in either. On conclusion, this is a novel minimally invasive technique to repair parastomal hernias that provides wide coverage of the defect and avoids leaving mesh intraperitoneally.

Laparoscopic versus robotic right colectomy: a single surgeon's experience.

There is increased interest in robotic techniques for colon resection, but the role of robotics in colorectal surgery has not yet been defined. The purpose of this study was to compare our recent experience with robotic right colectomy to that with laparoscopic right colectomy. From November 2008 to June 2011, a total of 47 consecutive patients underwent elective, right colectomy: 25 laparoscopic right colectomies (LRC) and 22 robotic right colectomies (RRC). All procedures in this study were performed by a single, board-certified colon and rectal surgeon (H.J.L.). Main outcomes recorded included conversion rate, operative time (OT), estimated blood loss (EBL), length of extraction sites, length of stay (LOS), and complications. Data studied were prospectively recorded in a database and were retrospectively reviewed. Mean OT for LRC was 107 ± 36.7 min (median 98, range 48-207) and for RRC was 189.1 ± 38.1 min (median 185, range 123-288, P < 0.001). Mean total operating room time (TORT) for LRC was 158.6 ± 38.1 min (median 149, range 104-274) and for RRC was 258.3 ± 40.9 (median 251, range 182-372, P < 0.001). The tendency lines for both OT and TORT decreased over time for RRC. EBL for LRC was 70.2 ± 52.9 ml (median 50, range 10-200) and for RRC was 60.8 ± 71.3 ml (median 40, range 10-300, P = 0.037). The mean extraction site length for the laparoscopic group was 5.3 ± 1.3 cm (median 5, range 4-11) and for the robotic group was 4.6 ± 0.7 cm (median 4.5, range 3.5-6, p = 0.008). LOS was similar for both groups, as were complications. No cases were converted to open. No leaks occurred and there was no 30-day mortality. RRC is safe and feasible, with similar outcomes to LRC. Operative times were longer for RRC; however, they compare favorably with times for LRC published in the literature. Extraction site length and EBL were less for RRC. However, further study is necessary to demonstrate the clinical relevance of these findings. We are optimistic that OT and TORT will continue to improve.

Prevalencia de factores de riesgo cardiovascular en una población adulta ambulatoria urbana: estudio AsuRiesgo, Paraguay / Prevalence of cardiovascular risk factors in an urban ambulatory adult population: AsuRiesgo study, Paraguay

Objetivo. Las enfermedades cardiovasculares son la principal causa de mortalidad en el mundo. Aunque la mayoría son prevenibles, su prevalencia sigue aumentando. El objetivo de este estudio fue estimar la prevalencia de factores de riesgo cardiovascular en una población hospitalaria ambulatoria urbana y adulta de Asunción, Paraguay. Métodos. Se realizó un análisis transversal de todos los pacientes incluidos en el estudio prospectivo de prevención cardiovascular AsuRiesgo dirigido al cambio del estilo de vida a un estilo de vida saludable. Se invitó a participar a personas de 18 y más años de edad que se encontraban en las zonas de espera de consultorios de un hospital terciario. Se obtvuvo información anamnésica, antropométrica y de laboratorio. Resultados. Se incluyeron 18 287 pacientes de 51 ± 16 años de edad, de los cuales 67,5% fueron mujeres. La media de peso corporal fue 77,5 ± 16,2 kg y el índice de masa corporal, 29,7 ± 5,9 kg/m². Las prevalencias de antecedentes de infarto de miocardio, accidente vascular cerebral, diabetes mellitus e hipertensión fueron, respectivamente, 2,6, 3, 13,3 y 53%, y las del hábito de fumar, dieta no saludable, sedentarismo y estrés psicológico, 29,3, 41,2, 58,2 y 56,6%. Por último, la prevalencia global de obesidad y sobrepeso fue 79,6%, las de prehipertensión e hipertensión arterial sistémica, 39 y 25%, respectivamente, y la del síndrome metabólico, 34,7%. Conclusiones. Si bien las prevalencias del hábito de fumar, hipertensión arterial sistémica y diabetes mellitus fueron bajas, las de obesidad, sedentarismo, estrés psicológico, dieta no saludable y síndrome metabólico fueron muy elevadas, lo cual justifica una acción global para prevenir discapacidades o fallecimientos por enfermedad isquémica cardiaca o cerebral. La implementación urgente de los programas con estos fines a escala nacional es imperativa.

Objective. Cardiovascular diseases are the leading cause of mortality in the world. Although most of them are preventable, their prevalence continues to increase. The objective of this study was to estimate the prevalence of cardiovascular risk factors in an urban ambulatory adult hospital population in Asunción, Paraguay. Methods. A cross-sectional study was undertaken in the population of patients enrolled in the AsuRiesgo prospective study on the prevention of cardiovascular disease, which focuses on promoting a healthy lifestyle. Patients 18 years of age or older who were encountered in doctors’ waiting rooms in a tertiary care hospital were invited to participate. Each patient’s clinical history, body measurements, and laboratory test results were obtained. Results. A total of 18 287 patients aged 51 ± 16 years were recruited. Of this group, 67.5% were female, with an average bodyweight of 77.5 ± 16.2 kg and a body mass index 29.7 ± 5.9 kg/m². The prevalence rates of a history of myocardial infarction, stroke, diabetes mellitus, and hypertension were 2.6%, 3%, 13.3%, and 53%, respectively, and the rates of smoking, unhealthy diet, sedentary lifestyle, and psychological stress were 29.3%, 41.2%, 58.2%, and 56.6%. The overall prevalence of obesity and overweight was 79.6%; the rates of prehypertension and systemic hypertension were 39% and 25%, respectively; and the prevalence of metabolic syndrome was 34.7%. Conclusions. Although the prevalence rates of smoking, systemic hypertension, and diabetes mellitus were low, those for obesity, sedentary lifestyle, psychological stress, unhealthy diet, and metabolic syndrome were very high. This finding demonstrates the need for global action to prevent disability and death from ischemic heart and cerebrovascular disease. It is urgent to implement programs to address these challenges on a national scale.

Prevalencia de factores de riesgo cardiovascular en una población adulta ambulatoria urbana: estudio AsuRiesgo, Paraguay / Prevalence of cardiovascular risk factors in an urban ambulatory adult population: AsuRiesgo study, Paraguay

OBJETIVO: Las enfermedades cardiovasculares son la principal causa de mortalidad en el mundo. Aunque la mayoría son prevenibles, su prevalencia sigue aumentando. El objetivo de este estudio fue estimar la prevalencia de factores de riesgo cardiovascular en una población hospitalaria ambulatoria urbana y adulta de Asunción, Paraguay. MÉTODOS: Se realizó un análisis transversal de todos los pacientes incluidos en el estudio prospectivo de prevención cardiovascular AsuRiesgo dirigido al cambio del estilo de vida a un estilo de vida saludable. Se invitó a participar a personas de 18 y más años de edad que se encontraban en las zonas de espera de consultorios de un hospital terciario. Se obtvuvo información anamnésica, antropométrica y de laboratorio. Resultados: Se incluyeron 18 287 pacientes de 51 ± 16 años de edad, de los cuales 67,5% fueron mujeres. La media de peso corporal fue 77,5 ± 16,2 kg y el índice de masa corporal, 29,7 ± 5,9 kg/m². Las prevalencias de antecedentes de infarto de miocardio, accidente vascular cerebral, diabetes mellitus e hipertensión fueron, respectivamente, 2,6, 3, 13,3 y 53%, y las del hábito de fumar, dieta no saludable, sedentarismo y estrés psicológico, 29,3, 41,2, 58,2 y 56,6%. Por último, la prevalencia global de obesidad y sobrepeso fue 79,6%, las de prehipertensión e hipertensión arterial sistémica, 39 y 25%, respectivamente, y la del síndrome metabólico, 34,7%. CONCLUSIONES: Si bien las prevalencias del hábito de fumar, hipertensión arterial sistémica y diabetes mellitus fueron bajas, las de obesidad, sedentarismo, estrés psicológico, dieta no saludable y síndrome metabólico fueron muy elevadas, lo cual justifica una acción global para prevenir discapacidades o fallecimientos por enfermedad isquémica cardiaca o cerebral. La implementación urgente de los programas con estos fines a escala nacional es imperativa.

OBJECTIVE: Cardiovascular diseases are the leading cause of mortality in the world. Although most of them are preventable, their prevalence continues to increase. The objective of this study was to estimate the prevalence of cardiovascular risk factors in an urban ambulatory adult hospital population in Asunción, Paraguay. METHODS: A cross-sectional study was undertaken in the population of patients enrolled in the AsuRiesgo prospective study on the prevention of cardiovascular disease, which focuses on promoting a healthy lifestyle. Patients 18 years of age or older who were encountered in doctors' waiting rooms in a tertiary care hospital were invited to participate. Each patient's clinical history, body measurements, and laboratory test results were obtained. RESULTS: A total of 18 287 patients aged 51 ± 16 years were recruited. Of this group, 67.5% were female, with an average bodyweight of 77.5 ± 16.2 kg and a body mass index 29.7 ± 5.9 kg/m². The prevalence rates of a history of myocardial infarction, stroke, diabetes mellitus, and hypertension were 2.6%, 3%, 13.3%, and 53%, respectively, and the rates of smoking, unhealthy diet, sedentary lifestyle, and psychological stress were 29.3%, 41.2%, 58.2%, and 56.6%. The overall prevalence of obesity and overweight was 79.6%; the rates of prehypertension and systemic hypertension were 39% and 25%, respectively; and the prevalence of metabolic syndrome was 34.7%. CONCLUSIONS: Although the prevalence rates of smoking, systemic hypertension, and diabetes mellitus were low, those for obesity, sedentary lifestyle, psychological stress, unhealthy diet, and metabolic syndrome were very high. This finding demonstrates the need for global action to prevent disability and death from ischemic heart and cerebrovascular disease. It is urgent to implement programs to address these challenges on a national scale.

Melanoma anorrectal: resección local amplia versus resección abominoperineal / Anorectal melanoma: local wide resection vs. abdominoperineal resection

La región anorrectal es el sitio más común de desarrollo de melanomas malignos en el tracto gastrointestinal; a pesar de ser una condición extremadamente rara, corresponden a 0,2.