Carmen Capito

Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy

BACKGROUNDnMorphological studies of the pancreas in persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have focused on the diagnosis of focal vs. diffuse forms, a distinction that determines the optimal surgical management. ABCC8 or KCNJ11 genomic mutations are present in most of them.nnnAIMnOur aim was to report a new form of PHHI with peculiar morphological and clinical characteristics.nnnRESEARCH DESIGN AND METHODSnHistopathological review of 217 pancreatic PHHI specimens revealed 16 cases morphologically different from diffuse and focal forms. They were analyzed by conventional microscopy, quantitative morphometry, immunohistochemistry, and in situ hybridization.nnnRESULTSnTheir morphological peculiarity was the coexistence of two types of islet: large islets with cytoplasm-rich β-cells and occasional enlarged nuclei and shrunken islets with β-cells exhibiting little cytoplasm and small nuclei. In small islets, β-cells had abundant insulin content but limited amount of Golgi proinsulin. Large islets had low insulin storage and high proinsulin production and were mostly confined to a few lobules. No evidence for K(ATP) channels involvement or 11p15 deletion was found. Genomic mutations for ABCC8, KCNJ11, and GCK were absent. Patients had normal birth weight and late hypoglycemia onset and improved with diazoxide. Ten were cured by limited pancreatectomy. Six recurred after surgery and were medically controlled.nnnCONCLUSIONnThis new form of PHHI is characterized by a morphological mosaicism. Pathologists should recognize this mosaicism on intraoperative frozen sections because it is often curable by partial pancreatectomy. The currently unknown genetic background does not involve the classical genomic mutations responsible for diffuse and focal PHHI.

Menstrual Retention In a Robert's Uterus

BACKGROUNDnRoberts uterus is an asymmetric septate uterus. This malformation is very rare, particularly in the pediatric age group. Radiologic findings could be surprising, but are very specific. We report here a representative case.nnnCASEnA 15-year-old patient complaining of recurrent abdominal cramps consulted the emergency department for evaluation of acute pain. Radiologic studies showed a circular lesion that had developed within the posterior wall of the uterus. The patient underwent surgery for a suspected Roberts uterus and an endometriectomy of the blind cavity was performed. There was no communication between the blind cavity and the ipsilateral fallopian tube.nnnSUMMARY AND CONCLUSIONnPediatric surgeons and gynecologists should be aware of this atypical obstructive Müllerian malformation and its management in order to avoid inappropriate management of these young patients.

Biliary atresia: Clinical advances and perspectives

Biliary atresia (BA) is a rare and severe inflammatory and obliterative cholangiopathy that affects both extra- and intrahepatic bile ducts. BA symptoms occur shortly after birth with jaundice, pale stools and dark urines. The prognosis of BA has dramatically changed in the last decades: before the Kasai operation most BA patients died, while nowadays with the sequential treatment with Kasai operation±liver transplantation BA patient survival is close to 90%. Early diagnosis is very important since the chances of success of the Kasai procedure decrease with time. The causes of BA remain actually unknown but several mechanisms including genetic and immune dysregulation may probably lead to the obliterative cholangiopathy. Current research focuses on the identification of blood or liver factors linked to the pathogenesis of BA that could become therapeutic targets and avoid the need for liver transplantation. No similar disease leading to total obstruction of the biliary tree exists in older children or adults. But understanding the physiopathology of BA may highlight the mechanisms of other destructive cholangiopathies, such as sclerosing cholangitis.

The surgical management of atypical forms of congenital hyperinsulinism.

Beyond the 2 classical forms of congenital hyperinsulinism, focal and diffuse, we report our experience on the surgical treatment of atypical forms. We define 2 subtypes among these atypical forms of hyperinsulinism: in case of a giant focal form the surgical strategy is the same as in focal forms. In case of hyperinsulinism caused by a mosaic, our experience suggests the benefit of a limited resection from the tail to the body of the pancreas.

Long term outcomes of intestinal rehabilitation in children with neonatal very short bowel syndrome: Parenteral nutrition or intestinal transplantation

BACKGROUND & AIMSnIntestinal rehabilitation is the preferred treatment for children with short bowel syndrome (SBS) whatever the residual bowel length, and depends on the accurate management of long-term parenteral nutrition (PN). If nutritional failure develops, intestinal transplantation (ITx) should be discussed and may be life-saving. This study aimed to evaluate survival, PN dependency and nutritional status in children with neonatal very SBS on PN or after ITx, in order to define indications and timing of both treatments.nnnPATIENTS AND METHODSnThis retrospective cross-sectional study enrolled 36 children with very SBS (<40xa0cm) who entered our intestinal rehabilitation program from 1987 to 2007.nnnRESULTSnAll the children on long-term PN (nxa0=xa016) survived with a follow-up of 17 years (9-20). Six of them were eventually weaned off PN. Twenty children underwent ITx: eight children died (40%) 29 months (0-127) after Tx. The others 12 patients were weaned off PN 73 days (13-330) after Tx. Follow-up after transplantation was 14 years (6-28). Seven out of 8 (88%) patients with a history of gastroschisis required ITx. Patients who required ITx had longer stoma duration.nnnCONCLUSIONnSurvival rate of children with very short bowel was excellent if no life-threatening complications requiring transplantation developed. Gastroschisis and delayed ostomy closure are confirmed as risk factor for nutritional failure. Intestinal rehabilitation may allow a total weaning of PN before adulthood. A follow-up by a multidisciplinary team is necessary to avoid PN complications in order to minimize indications for ITx.

Extracorporeal Membrane Oxygenation Can Save Lives in Children With Heart or Lung Failure After Liver Transplantation

The risk of cardiac or lung failure after liver transplantation (LT) is significant. In rare cases, the usual intensive care techniques fail to maintain organ oxygenation with a risk of multiorgan dysfunction. Although extracorporeal membrane oxygenation (ECMO) is a difficult and risky procedure, it can be proposed as life-saving. Four children with either acute pulmonary (three) or cardiac (one) failure after LT, and the criteria that decided the use of ECMO (level of ventilation and results, dosage of inotropic drugs, cardiac ultrasound, blood lactate) were retrospectively reported. These patients, 1-11 years old, were treated with either veno-arterial (three) or veno-venous (one) ECMO. Two experienced a full recovery, with 3 and 6 years of follow-up. Two died of systemic inflammatory response syndrome (SIRS) due to ECMO, and relapse of heart failure due to the underlying disease. Although our patients survival was only 50%, we showed that ECMO can be useful in children after LT. It should be considered before the development of irreversible multiorgan failure.

Fertility considerations and the pediatric oncology patient

Recent years have witnessed marked improvement in cytotoxic treatments with a parallel increase in patient survival. Despite efforts done to minimize long-term side effects of these treatment regimens, it is estimated that 40% of survivors of pediatric cancer will suffer from those. Some will be mild whereas others such as impaired fertility will be a heavy load on parents׳ expectations and patient׳s quality of life. Gonadal damage and severe loss of function is not a rare condition among children cured for cancer. Despite the young age of those patients, methods exist to try to reduce gonadal insult or to preserve gonadal function. Some of them are well studied and controlled; others are more experimental with encouraging results so far. This article aims to summarize all the procedures that can be offered to young patients treated for cancer in order to protect, as possible, their fertility potential.

An update on congenital hyperinsulinism: advances in diagnosis and management

Introduction: Congenital hyperinsulinism (CHI) is the term used for hyperinsulinemic hypoglycemia due to a primary defect of the pancreatic β-cell owing to genetic causes. Severe CHI is responsible for recurrent severe hypoglycemia in neonates. A delayed diagnosis or improper medical management is responsible for brain damage in approximately one-third of patients. Areas covered: From the experiences of the authors and an extensive review of the literature, this review aims to offer a precise overview of the current knowledge in the field of CHI, including the latest updates, and a description of the current medical and surgical management proposed in referral centers for CHI worldwide. Expert opinion: Despite satisfactory care of the focal form of CHI, severe diffuse CHI is a burden for patients and families, and a subtotal pancreatectomy only offers a short-term respite, since insulin requiring diabetes is the unavoidable outcome. A better understanding of the disease mechanisms (e.g., concerning spontaneous remission) and the development of new therapeutic tools should lead to a safe conservative approach for severe, focal and diffuse CHI.

Preoperative risk factors for intra‐operative bleeding in pediatric liver transplantation

This study analyzes the preoperative risk factors for intra‐operative bleeding in our recent series of pediatric LTs. Between November 2009 and November 2014, 84 consecutive isolated pediatric LTs were performed in 81 children. Potential preoperative predictive factors for bleeding, amount of intra‐operative transfusions, postoperative course, and outcome were recorded. Cutoff point for intra‐operative HBL was defined as intra‐operative RBC transfusions ≥1 TBV. Twenty‐six patients (31%) had intra‐operative HBL. One‐year patient survival after LT was 66.7% (CI 95%=[50.2–88.5]) in HBL patients and 83.8% (CI 95%=[74.6–94.1]) in the others (P=.054). Among 13 potential preoperative risk factors, three of them were identified as independent predictors of high intra‐operative bleeding: abdominal surgical procedure(s) prior to LT, factor V level ≤30% before transplantation, and ex situ parenchymal transsection of the liver graft. Based on these findings, we propose a simple score to predict the individual hemorrhagic risk related to each patient and graft association. This score may help to better anticipate intra‐operative bleeding and improve patients management.

Ovarian and Genital Tract Neoplasms

Neonatal tumors occur every 12,500–27,500 live births and ovarian and female genital tract tumors are reported as rare cases in the literature.