Amyand's Hernia: Appendix in Hernia or Hernial Appendicitis?

Purpose: The presence of an appendix in the inguinal hernia sac is defined as Amyand's hernia (AH). This study intends to present the authors' experience in dealing with this entity and also to present a discussion on possible need of updating its definition, classification, and management. Materials and Methods: A retrospective analysis of records of all pediatric patients undergoing surgery for congenital inguinal hernia in a single unit from January 2017 to March 2021 was done. Patient's demographics, clinical presentation, preoperative investigations, peroperative findings, and postoperative outcomes were recorded and analyzed. Results: AH was found in eight patients. All were boys. The median age of presentation was 20.5 months (range 2 months to 36 months). The mean duration of symptoms was 2 days (range 2 to 4 days). All patients presented with incarcerated inguinoscrotal swelling (right sided = 5, left sided = 3); associated with pain. An abdominal radiograph and ultrasonography were done for all. All patients underwent emergency surgery. Exploration was done for all through an inguinal incision. The appendix was found inflamed for two patients, and appendectomy was done for the same. None of the patients underwent incidental appendectomy. Wound infection, secondary appendicitis, and recurrence were not seen for any of the patients. The authors have also proposed a revised definition and classification of AH. Conclusion: AH is an interesting entity and many questions like the need for incidental appendectomy remain unanswered. An updating of the definition and classification system can probably offer some solution in this regard. However, more research is warranted in this regard.

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered variants of unknown significance (VUS) which could provide insights into CPC manifestation. From whole exome sequencing (WES) performed earlier, the trio exomes were analyzed from those who were admitted to J.K. Lon Hospital, SMS Medical College, Jaipur, India, between 2011 and 2017. The proband exomes were compared with the unaffected sibling/family members, and we sought to ask whether any variants of significant interest were associated with the CPC manifestation. The WES data from a total of 64 samples including 16 affected neonates (11 male and 5 female) with their parents and unaffected siblings were used for the study. We examined the role of rare allelic variation associated with CPC in a 16 proband/parent trio family, comparing the mutations to those of their unaffected parents/siblings. We also performed RNA-Seq as a pilot to find whether or not the genes harboring these mutations were differentially expressed. Our study revealed extremely rare variants, viz., TAF1B, MUC5B and FRG1, which were further validated for disease-causing mutations associated with CPC, further closing the gaps of surgery by bringing intervention in therapies.

Inferring bona fide Differentially Expressed Genes and Their Variants Associated with Vitamin K Deficiency Using a Systems Genetics Approach.

Systems genetics is key for integrating a large number of variants associated with diseases. Vitamin K (VK) is one of the scarcely studied disease conditions. In this work, we ascertained the differentially expressed genes (DEGs) and variants associated with individual subpopulations of VK disease phenotypes, viz., myocardial infarction, renal failure and prostate cancer. We sought to ask whether or not any DEGs harbor pathogenic variants common in these conditions, attempt to bridge the gap in finding characteristic biomarkers and discuss the role of long noncoding RNAs (lncRNAs) in the biogenesis of VK deficiencies.

Heteropagus twins: six cases with systematic review and embryological insights.

PURPOSE: Heteropagus twinning (HT) is a rare anomaly. Six new cases along with a systematic review are described. METHODS: Six cases of HT managed at two tertiary care teaching hospitals over the last 26 years are described. A PubMed search with words: Heteropagus AND/ OR parasitic twins from 2001 to 2021 hit 183 articles. 36 were added from non-PubMed sources. Finally, 120 cases including 114 from 69 articles and 6 new cases were analysed. RESULTS: Of the new cases, 2/6 had an antenatal diagnosis. Five were males. 4 autosites had omphaloceles. Split notochord and 2 parasites attached to a single autosite were encountered. 5/6 autosites survived. On systematic review, the most frequent variant seen was rachipagus (n = 50) followed by omphalopagus (n = 46). Limbs were reported in 75 cases. Congenital heart disease was seen in 17/120(14.2%) autosites. Omphalocele and meningomyelocele were the most common extracardiac anomalies in autosites. Weight along with the anatomy and position of heteropagus twins was a better determinant of the mode of delivery than weight alone. Mortality was reported in 12 cases. CONCLUSION: Autosites in HT generally carry a good prognosis, however, final outcome depends mainly on associated major cardiac anomalies. Meticulous antenatal assessment and preoperative planning are of paramount importance. LEVEL OF EVIDENCE: IV.

Hepatobiliary malformations: proposed updation of classification system, clinicopathological profile and a report of largest pediatric giant choledochal cyst.

BACKGROUND: The present study was aimed to update the classification of hepatobiliary malformations and study the clinicopathological profile of pediatric choledochal cyst (CDC) and pediatric giant choledochal cyst (GCC) patients undergone surgery. METHODS: We have retrospectively analysed the data of 57 consecutive cases of CDCs in paediatric patients from a time period spanning from 2016 to 2020. RESULTS: Revised classification of hepatobiliary malformations was proposed and these were divided into 2 broad headings, choledochal (congenital and acquired) and extra-choledochal spectrum. 57 pediatric patients were diagnosed as having CDC with average age 4.615 years and female to male ratio of 3.7:1. We have also reported one of the largest GCC measuring 23 × 10 × 9 cm size. The classical triad was known to be more common and seen in 60% GCCs as opposed to 14.5% in CDCs. Values of serum bilirubin, SGOT, SGPT, PT/INR were elevated in CDC series and normal in GCC patients. 55 patients (96.5%) underwent cyst excision and Roux-en-Y hepaticojejunostomy. Mortality was seen in 7.01% patients (n = 4) following surgery. CONCLUSION: Simplified and broader classification system for CDCs has been proposed. Clinical studies found that GCC differs considerably from classical CDCs.

Spontaneous Esophageal Perforation in an Infant: A Rare Case.

Spontaneous perforation of the esophagus is an emergency that requires early diagnosis and management. It may be fatal and delay in treatment can cause an increase in morbidity and mortality. Despite of being very rare in infants, we have to be watchful whenever we encounter signs and symptoms related to it. Only 7 cases of spontaneous esophageal perforation in infants have been report in the literature to the best of our knowledge. Here we are reporting a rare case of spontaneous esophageal rupture in an infant.

Consensus on the Management of Posterior Urethral Valves from Antenatal Period to Puberty.

The need for successful management of posterior urethral valves always captivates the minds of pediatric surgeons. Its success, however, depends on several factors ranging from prenatal preservation of upper tracts to postoperative pharmacological compliance. Regardless of measures available, some cases do not respond and progress to end stage. The management depends on several issues ranging from age and severity at presentation to long-term follow-up and prevention of secondary renal damage and managing valve bladder syndrome. This article is based on a consensus to the set of questionnaires, prepared by research section of Indian Association of Paediatric Surgeons and discussed by experienced pediatric surgeons based in different institutions in the country. Standard operating procedures for conducting a voiding cystourethrogram and cystoscopy were formulated. Age-wise contrast dosage was calculated for ready reference. Current evidence from literature was also reviewed and included to complete the topic.

Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature.

BACKGROUND: The association of neonatal intestinal obstruction with situs inversus totalis is extremely rare with only few cases reported in the literature to date. This association poses dilemmas in management. We present two such cases (of Indian origin), and briefly discuss the pertinent literature and measures to prevent unfavorable outcome. CASE PRESENTATION: Case 1: a 1-month-old preterm (1300 g) male neonate belonging to Hindu (Indian) ethnicity presented with recurrent bile-stained vomiting, non-passage of stools and epigastric fullness. A babygram and upper gastrointestinal contrast studies revealed situs inversus and suggested proximal jejunal obstruction with midgut volvulus. Exploration confirmed situs inversus totalis along with reverse rotation and midgut volvulus. There was a small gangrenous area in the proximal jejunal loop. A Ladd's procedure, resection of the gangrenous jejunal loop, and jejunojejunal anastomosis was performed. Note was made of the unusual appearance of the intestines suggestive either of fibrous or fatty infiltration. Postoperatively, our patient developed septicemia and died. Case 2: a 4-day-old female neonate belonging to Hindu (Indian) ethnicity, small (1320 g) for gestation, presented with history of non-passage of meconium since birth, refusal to accept feeds, and episodes of recurrent bilious vomiting with abdominal distension. A plain radiogram revealed situs inversus and proximal jejunal obstruction. Ultrasonography of her abdomen revealed renal dysplastic changes in both her kidneys. Laparotomy confirmed multiple jejunoileal atresias with situs inversus totalis. Resection anastomoses was performed for multiple atresias. Our patient passed a few pellets of meconium stools postoperatively; feeds were started gradually on the sixth day. Our patient gradually developed oliguria and renal failure, followed by respiratory distress and generalized edema requiring ventilatory support. She died later due to multiorgan failure. CONCLUSIONS: Clinicians should have high index of suspicion for malrotation with midgut volvulus or intestinal atresias in neonates of situs inversus presenting with bilious vomiting. The surgical treatment should follow the same surgical principles. In situs inversus, because of transposition of viscera, midgut volvulus may occur in an anticlockwise direction, hence derotation is performed clockwise. Prognosis was poor in our series because of low birth weight, late presentation, presence of gangrenous locus in the small bowel and development of septicemia in our first case and multiorgan fibrosis/dysplasia in our second case. Early diagnosis and timely referral is paramount for favorable outcome.

Intestinal Atresia: Experience at a Busy Center of North-West India.

Objective: To evaluate the presentation, management, complications and outcome of intestinal atresia (IA) managed at our center over a period of 1 year. Materials and methods: Records of patients of IA admitted in our center from January 2015 to December 2015 were retrospectively analyzed. Demographic data, antenatal history, presenting complaints, location (duodenal, jejunoileal, colonic) of atresia, surgery performed and peri-operative complications were noted. Results: Total 78 cases of IA were included in the analyses. Mean age and weight at the time of presentation was 5.8 days (range 0-50), and 1.9 kg (range 1.1-3.2), respectively. IA included duodenal atresia [DA (32)], jejuno-ileal atresia [JIA (40)], colonic atresia [CA (3)] and atresia at multiple-location (sites) in 3 cases. Ninety percent of patients underwent surgery within 5 to 20 hours of admission. All cases of DA except one underwent Kimura's diamond shaped duodeno-duodenostomy. One case with perforated duodenal web underwent duodenotomy with excision of web. Seven patients with JIA and CA required primary stoma, while rest were managed by excision of dilated proximal segment and primary anastomosis. Complications included anastomotic leak in 5, proximal perforation in 2, functional obstruction in 7, aspiration pneumonitis in 3, and wound infection in 6 patients. Mean hospital stay for survivors was 11 days. Overall survival was 63%. Conclusion: Late presentation, overcrowding in intensive care unit, septicemia, functional obstruction and anastomotic leak are the causes of poor outcome in our series. Early diagnosis, some modification in surgical technique, use of total parenteral nutrition and adequate investigations for other congenital anomalies may improve the outcome.

More Distally Located Duodenal Webs: A Case Series.

Duodenal atresia is a frequent cause of intestinal obstruction in the newborn. Obstruction due to duodenal web is infrequent, but its location other than second part of duodenum is rare with only a few cases reported in the literature. We are reporting three patients where we found duodenal webs at unusual locations. In one neonate the web was located at third part of duodenum and in other two patients the web was present at duodeno-jejunal junction (DJ).

Intrapulmonary Recombinant Factor VII as an Effective Treatment for Diffuse Alveolar Hemorrhage: A Case Series.

BACKGROUND: The diffuse alveolar hemorrhage (DAH) syndrome is a life-threatening pulmonary complication related to systemic vasculitides, posthematopoietic stem cell transplantation, drugs, or toxins. Once DAH develops, the mortality rate is as high as 50% to 80%. Initial treatment consists of high-dose steroids and supportive measures, including mechanical ventilation. We present a case series of 6 patients treated with intrapulmonary recombinant factor VIIa (rFVIIa) to treat refractory DAH. METHODS: Six patients with DAH were treated with intrapulmonary instillation of rFVIIa. Doses were divided equally between the right and the left lungs. Doses were 30, 50, or 60 mcg/kg and frequencies varied from a single administration to repeated doses on subsequent days on the basis of the clinical response. All patients received high-dose steroids, and 4 also received an aminocaproic acid infusion. RESULTS: Intrapulmonary rVFIIa treated DAH effectively in 5 of 6 patients. Doses used were smaller and less frequent than those described previously. CONCLUSIONS: Intrapulmonary factor VII is an effective adjunctive treatment for DAH. We achieved treatment success with both smaller and less frequent doses than those described previously. This may be a good therapeutic option for DAH, particularly when standard therapies have failed or bleeding is immediately life threatening. It is possible that intrapulmonary rFVIIa could save costs, while improving the intensive care unit length of stay. Further prospective studies are needed to assess the optimal dose and frequency for adequate therapeutic efficacy.

Gallbladder Duplication Associated with Gastro-Intestinal Atresia.

Gallbladder duplication in association with other GIT anomalies is a rare entity. We report two neonates; one with duodenal atresia and the other newborn with pyloric atresia, ileal atresia and colonic atresia, both were associated with gallbladder duplication which has not been reported earlier.

Advances in pleural diseases: what is the future for medical thoracoscopy?

PURPOSE OF REVIEW: Medical thoracoscopy provides the physician a window into the pleural space. The procedure allows biopsy of the parietal pleura under direct visualization with good accuracy. In addition, it achieves therapeutic goals of fluid drainage, guided chest tube placement, and pleurodesis. RECENT FINDINGS: Comparable diagnostic yield is achieved with the flexi-rigid pleuroscope even though pleural biopsies are smaller using the flexible forceps as compared to rigid thoracoscopy. Flexi-rigid pleuroscopy is extremely well tolerated and can be performed safely as an outpatient procedure. Biopsy quality can be further enhanced with accessories that are compatible with the flex-rigid pleuroscope such as the insulated tip knife and cryoprobe. SUMMARY: With more sensitive tools to image the pleura such as contrast-enhanced computed tomography, MRI, ultrasonography, PET, increased yield with image-guided biopsy as well as advances in cytopathology, what lies in the future for medical thoracoscopy remains to be seen. However, it is the authors' opinion that medical thoracoscopy will evolve with time, complement novel techniques, and continue to play a pivotal role in the evaluation of pleuropulmonary diseases.

An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia.

A blunt­tipped red rubber catheter is used to confirm the presence of esophageal atresia in any newborn with drooling of saliva and frothing from the mouth. Failure to pass it beyond 10cms into the esophagus is considered diagnostic. We here in report an extremely rare case of broken tip of red rubber catheter lodged in the laryngopharynx of 2-day-old neonate of esophageal atresia with distal tracheoesophageal fistula. During endotracheal intubation foreign body was accidentally removed.

Salvage splenopexy for torsion of wandering spleen in a child.

The wandering spleen is a rare condition characterized by the absence or underdevelopment of one or all of the splenic suspensory ligaments that resulting in increased splenic mobility and rarely torsion. Preventing infarction is the aim of a prompt surgery by splenopexy. We report a case of salvage splenopexy in torsion of a wandering spleen in a three year old girl presented with severe abdominal pain for three days.

Stage 4S Bilateral Adrenal Neuroblastoma in a Newborn.

Stage 4S bilateral adrenal neuroblastoma presenting in the neonatal period is extremely rare. A 1-day-old male with 4Sbilateral adrenal neuroblastoma complicated by marked hepatomegaly managed by chemotherapy is being reported. The provisional diagnosis of neuroblastoma was made in the fetal life during the last trimester of pregnancy. Cardiomyopathy due to doxorubicin cytotoxicity developed over ensuing years, which is being treated.

Biliary atresia associated with polysplenia syndrome, dextrocardia, situs inversus totalis and malrotation of intestines.

Biliary atresia (BA) is a rare disease and the end result of a destructive, inflammatory cholangiopathy, leading to fibrosis and biliary cirrhosis. It is classified into syndromic variety with various congenital anomalies and non-syndromic (isolated anomaly). We present here a 1-month-old female child with the syndromic variety of BA associated with polysplenia syndrome, dextrocardia, situs inversus totalis and malrotation of intestines. She developed jaundice in the first week of life. Kasai operation was performed but she developed cholangitis and septicemia 2.5 months after surgery and succumbed later.

Diagnosis and treatment of bronchial intraepithelial neoplasia and early lung cancer of the central airways: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines.

BACKGROUND: Bronchial intraepithelial lesions may be precursors of central airway lung carcinomas. Identification and early treatment of these preinvasive lesions might prevent progression to invasive carcinoma. METHODS: We systematically reviewed the literature to develop evidence-based recommendations regarding the diagnosis and treatment of intraepithelial lesions. RESULTS: The risk and timeline for progression of bronchial intraepithelial lesions to carcinoma in situ (CIS) or invasive carcinoma are not well understood. Multiple studies show that autofluorescence bronchoscopy (AFB) is more sensitive that white light bronchoscopy (WLB) to identify these lesions. In patients with severe dysplasia or CIS in sputum cytology who have chest imaging studies showing no localizing abnormality, we suggest use of WLB; AFB may be used as an adjunct when available. Patients with known severe dysplasia or CIS of central airways should be followed with WLB or AFB, when available. WLB or AFB is also suggested for patients with early lung cancer who will undergo resection for delineation of tumor margins and assessment of synchronous lesions. However, AFB is not recommended prior to endobronchial therapy for CIS or early central lung cancer. Several endobronchial techniques are recommended for the treatment of patients with superficial limited mucosal lung cancer who are not candidates for resection. CONCLUSION: Additional information is needed about the natural history and rate of progression of preinvasive central airway lesions. Patients with severe dysplasia or CIS may be treated endobronchially; however, it remains unclear if these therapies are associated with improved patient outcomes.