Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia,intractable epilepsy,and complex gastrointestinal and urogenital malformations

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.     

Arteriovenous fistula and nerve conduction velocity in patients on hemodialysis: statistical and electrographic findings

The aim of this study was to investigate the possible influence of arteriovenous fistula (AVF) on nerve conduction velocity in patients on intermittent hemodialysis and its relevance to the pathogenesis of carpal tunnel syndrome (CTS). The data on 22 patients showed no statistically significant differences in the electrographic parameters considered. This suggests that AVF by the end-to-end method plays no significant part in the alteration of nerve conduction. Possibly radial steal phenomena, which occur with other types of AVF, are at least partly responsible for the reported cases of CTS.

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Sommario Scopo di questo studio è stato indagare l'eventuale influenza della fistola arterovenosa (FAV) sulla velocità di conduzione nervosa in pazienti in trattamento emodialitico periodico, per le sue pssibili implicazioni nella patogenesi della sindrome del tunnel carpale (CTS). Vengono presentati i dati relativi a 22 pazienti. I risultati non hanno evidenziato differenze statisticamente significative dei parametri elettrografici considerati.Pertanto i nostri dati suggeriscono che la FAV (eseguita secondo la tecnica termino-terminale) non riveste un ruolo significativo nell'alterazione della conduzione nervosa. È possibile che fenomeni di furto nel territorio dell'arteria radiale, che si verificano con FAV eseguite con altra modalità, siano, almeno in parte, responsabili dei casi di CTS segnalati nella letteratura al riguardo.

     

Thoracic duct lymph and PEEP studies in anaesthetized dogs

PEEP impedes thoracic duct drainage (LF). This can be counteracted by a thoracic duct fistula. Consequently, lung oedema (LOE) should develop during PEEP more slowly with LF at atmospheric pressure (LF_AP) than with LF against jugular venous pressure (LF_JVP). In 12 anaesthetized dogs LOE was produced by Ringer's solution i.v. (2.5 ml/min per kg) for 6 h during PEEP (10 mmHg) with either LF_AP or LF_JVP. Ringer's+PEEP greatly increased aortic, pulmonary artery and wedge pressures, JVP, and cardiac output. Colloid osmotic pressures in plasma and lymph were drastically reduced, pulmonary effective filtration pressure (EFP) rose by about 20 mmHg. LF_JVP increased 7-fold, LF_AP about 19-fold, the respective loss of plasma proteins was 1.83 and 1.06 g/kg during 6 h. Thermal-dye extravascular lung water showed an increment of 68 with LF_JVP versus 43 l/h/g per mmHg with LF_AP. Final lung water content was at any EFP (12.8–31.9 mmHg) lower with LF_AP than with LF_JVP amounting 512 with LF_JVP versus 377 l/g/per mmHg with LF_AP. LF_AP decreased the development of LOE during PEEP by bypassing the PEEP-induced high JVP and thus facilitating the removal of interstitial fluid. It is hypothesized that a thoracic duct fistula might aid the treatment of patients with LOE due to ARDS and therefore requiring high levels of PEEP.     

电视腹腔镜胆囊切除术胆漏的预防和处理

目的：降低电视腹腔镜胆囊切除术（LC）胆漏的发生率,提高治愈率,防止胆漏对病人的危害。促进愈合。方法：分析1991年12月－1998年12月我院开展LC4000例,出现胆漏29例的原因,用线扎代替钛夹处理胆囊管和胆囊血管,简化了胆囊三角的过多解剖;术中针对性的置放引流管防止胆汁性腹膜炎;特殊情况的胆囊作特殊处理。结果：拓宽了LC的适应范围,大大减少了手术中胆管的损伤、出血。发生胆漏的病人中有41％（12／29）困术中置管引流而未出现胆汁性腹膜炎,并很快康复。术后B超动态观察胆囊窝积液情况,及时引流,胆漏多能自愈。结论：熟练的操作技巧能避免手术损伤,认真线扎处理胆囊管和胆囊血管并针对性置放引流管,能有效防止胆漏和胆汁性腹膜炎;及时发现、及时处理是减少胆漏危害的关键。     

心导管术后的外周血管并发症及其处理

目的 探讨心导管术后的外周血管并发症的发生原因、临床表现和处理方法。方法 对心导管术后有外周血管并发症的患者的临床资料进行分析。结果 本院1996年1月-2000年1月共完成各类心导管术508例,发现外周血管并发症28例（5.5%),其中局部血肿22例,假性动脉瘤1例,动脉静瘘1例,静脉血栓形成2例,动脉血栓形成1例,股神经功能障碍1例。所有并发症经内科保守治疗后均好转。结论 心导管术后外周血管并发症不可忽视。但只要及时处理。绝大多数预后良好。     

胃-肠瘘引起腹泻的临床分析(附5例报告)

目的 探讨胃－肠瘘引起腹泻的临床特点。方法 从1988年1月－1998年12月我院消化内科住院患者2885例中筛选出以腹泻为主要临床表现的所有病例,其中胃－肠瘘为病因的5例,总结分析其各方面的临床资料。结果 5例患者均有毕II式胃大部切除术病史,腹泻特点均为吸收不良性腹泻表现,予去麦胶饮食及抗感染治疗,疗效欠佳。就诊时均有明显的低蛋白血症。均能通过消化道钡餐造影明确诊断,胃镜诊断率仅40％。二次手术治疗,症状均得到缓解。结论 在诊治腹泻患者,特别是有胃大部切除病史的患者时,要考虑到胃－肠瘘的可能。     

The impact of location and patency of the arteriovenous fistula on quality of life of kidney transplant recipients

BackgroundArteriovenous fistulae (AVFs) may remain patent after kidney transplantation (KTx), contributing to maladaptive cardiac remodeling. The flow in AVFs is associated with the diameter of its vessels and thus with the AVF location. The main objective of this study is to assess the influence of AVF location and its patency on the self-reported quality of life (QOL) of kidney transplant recipients (KTRs) with past history of hemodialysis.MethodsTo gain clinical data, during a scheduled visit, 353 KTRs were asked to fill out an anonymous questionnaire. From this group, 284 respondents were found eligible for analysis. The outcome was defined as prevalence of symptoms and health status, measured with the Left Ventricular Dysfunction-36 (LVD-36) Questionnaire in symptomatic patients.ResultsThe hemodialysis patients (n = 243) were divided into two groups according to AVF location, i.e., DAVF – distally located AVF – (n = 174) and PAVF – proximally located AVF – (n = 69). The proportion of patients with heart failure (HF) was higher in PAVF group (24% vs. 12%, p = 0.0482). In the multivariable regression, PAVF, serum creatinine levels, and the presence of HF or coronary artery disease (CAD) remained independent predictors of lower functional capacity. Among patients with heart disease, the presence of active AVF was independently associated with worse functional outcome (higher LVD-36 scores).ConclusionsThe influence of persistent PAVF in KTRs seems to be unfavorable, especially when coexisting with CAD or HF. Abbreviations: AVF arteriovenous fistula; BMI body mass index; CAD coronary artery disease; D-AVF distally-located arteriovenous fistula; EC exercise capacity; HD hemodialysis; HF heart failure; KTx kidney transplantation; KTR kidney transplant recipient; LVD-36 Left Ventricle Disfunction – 36; LVEF left ventricle ejection fraction; LVH left ventricle hypertrophy; NYHA New York Heart Association; P-AVF proximally located arteriovenous fistula; PD peritoneal dialysis; PRO patient-reported outcomes; QOL quality of life.     

Duodenal complications in necrotizing pancreatitis: Challenges of an overlooked complication

BackgroundDuodenal complications of necrotizing pancreatitis (NP) are challenging and understudied. We sought to characterize the demographics and clinical course of NP patients with duodenal complications.MethodsSingle institution retrospective review of 687 NP patients treated from 2005 to 2018.ResultsDuodenal complications developed in 40 (6%) patients including fistula in 11 (2%) and stricture in 29 (4%) patients. Patients with duodenal complications had increased computed tomography severity index (CTSI), degree of glandular necrosis, organ failure, infected necrosis, and disease duration. Mortality from NP was increased in patients with duodenal fistula (36%) compared to patients with duodenal stricture (7%) and patients without duodenal complications (9%). Surgical management of duodenal complications was required in 9/11 (82%) patients with fistula and 17/29 (59%) patients with stricture.ConclusionsDuodenal complications occurred in 6% of necrotizing pancreatitis patients. Sixty five percent of patients with duodenal complications required surgical correction. Duodenal fistula was associated with increased mortality.     

Duodenopancreatectomía cefálica y tutorización externa del conducto de Wirsung. Resultados de una serie de 80 casos consecutivos

IntroductionThere is controversy regarding the ideal pancreaticojejunostomy technique after pancreaticoduodenectomy. Many authors consider the external Wirsung stenting technique to be associated with a low incidence of fistula, morbidity and mortality. We analyse our experience with this technique.Patients and methodsA retrospective analysis of the morbidity and mortality of a series of 80 consecutive patients who had been treated surgically over a 6.5-year period for pancreatic head or periampullary tumors, performing pancreaticoduodenectomy and pancreaticojejunostomy with external Wirsung duct stenting.ResultsMean patient age was 68.3 ± 9 years, and the resectability rate was 78%. The texture of the pancreas was soft in 51.2% of patients and hard in 48.8%. Pylorus-preserving resection was performed in 43.8%. Adenocarcinoma was the most frequent tumor (68.8%), and R0 was confirmed in 70% of patients. Biochemical fistula was observed in 11.2%, pancreatic fistula grade B in 12.5% and C in 2.5%, whereas the abdominal reoperation rate was 10%. Median postoperative hospital stay was 16 days, and postoperative and 90-day mortality was 2.5%. Delayed gastric emptying was observed in 36.3% of patients, de novo diabetes in 12.5%, and exocrine insufficiency in 3. Patient survival rates after 1, 3 and 5 years were 80.2, 53.6 and 19.2%, respectively.ConclusionsAlthough our low rates of postoperative complications and mortality using external Wirsung duct stenting coincides with other more numerous recent series, it is necessary to perform a comparative analysis with other techniques, including more cases, to choose the best reconstruction technique after pancreaticoduodenectomy.