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.

Incarcerated Littre's Hernia in a Neonate Presenting as Enteroscrotal Fistula.

A 27-day-old male neonate, presented with feculent discharge from the scrotum. Operative findings revealed incarcerated right inguinal hernia with perforated Meckel's diverticulum as its content, leading to enteroscrotal fistula. Resection of the Meckel's diverticulum and end-to-end ileoileal anastomosis was performed along with repair of inguinal hernia from within the abdominal cavity. The outcome was favorable. Enteroscrotal fistula due to incarceration of inguinal hernia is a rare presentation. We are adding to the literature, an extremely rare case of incarcerated Littre's hernia in the right inguinal region presenting as enteroscrotal fistula in a neonate.

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.

Spachelated Intussusception a Forgotten Entity: Historical Review and a Case Report.

Intussusception of one or another type is frequently seen in children and is the most common cause of acute bowel obstruction. This pathology is usually promptly recognized and treated accordingly. But if untreated, this entity can have either of the two outcomes. The first one is death from peritonitis and resulting toxemia, which is the most common one. The second one is spontaneous elimination followed by auto-anastomosis and is extremely infrequent. We report one such case of this rare progression who was found to have old healed small bowel intussusception with luminal narrowing on exploration for acute bowel obstruction. We have also reviewed the world literature to understand the mechanism and circumstances under which this progression occurs.

Muscle-Sparing Skin Crease Incision Posterolateral Thoracotomies in Pediatric Patients: Our Experience.

Context: Standard posterolateral muscle cutting thoracotomies in pediatric patients are associated with morbidities in terms of poor motor and esthetic outcomes and also more postoperative analgesia requirement, when compared with muscle-sparing technique. Aims: The aim of this study is to evaluate the outcomes of muscle-sparing skin crease incision posterolateral thoracotomies in pediatric patients in terms of abovementioned variables. Settings and Design: This prospective observational study was conducted over a period from January 2016 to July 2020 in a tertiary care teaching institute. Materials and Methods: All patients of stage 3 empyema and pulmonary hydatidosis were included in the study. Results: Thirty-nine patients fulfilled the inclusion criteria. There were 38 children with organized (Stage 3) empyema and one patient with bilateral lung hydatid. There were 24 males and 15 females; age ranging from 6 months to 15 years. Right thoracotomy was performed in 28, left in 10, and bilateral in one patient with lung hydatid. Adequate exposure was achieved in all cases. Decortication with complete excision of thickened parietal pleura with stripping of the visceral peel and release of the entrapped lung was performed in all 38 patients. In 5 children along with decortication, repair of bronchopleural fistula due to necrotizing pneumonia was performed. Bilateral thoracotomies with pericystectomies were performed with a gap of 3 weeks for lung hydatid. Lung expansion assessment at 3 months was satisfactory. Ultrasound assessment of the latissimus dorsi muscle and serratus anterior muscle at 4 weeks revealed complete integrity in all the cases. Most of the patients achieved satisfactory motor and esthetic outcomes. Conclusions: Muscle-sparing skin crease incision posterolateral thoracotomy is a viable alternative to standard posterolateral muscle cutting thoracotomy, especially in a resource-challenged setting. The technique is easy to perform with satisfactory exposure.

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.

Is Pouch Specific to Colon and Not Ileum?

BACKGROUND: Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in north Indian tertiary care centers. OBJECTIVE: In this article, we deliberate on the possible causes associated with CPC bringing the manifestation of the disease. In addition, we throw insights on the effective role of this congenital anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies. CONCLUSION: In this commentary article, we argue that a host of epigenetic factors could be the reason why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges linking epigenetics to understand the genetic variants.

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.

Congenital Pouch Colon: Role of Genetics or Environmental Influence?

BACKGROUND: Congenital pouch colon (CPC), a high type of anorectal malformation, is a sporadic disease and several environmental factors are known to be involved in its pathology. To the best of our knowledge, no familial incidence of CPC has been reported anywhere in the literature so far. AIM: In the present study, which is first of its kind, we have reported the familial incidences of CPC and also tried to elucidate the role of genetics in this pathology. METHODS: We have reported 1 familial pedigree of CPC and 2 incidences of dizygotic twins (DZ), out of them one is affected and another one is normal. Highly comprehensive microarray CytoScan HD from Affymetrix was employed to understand the defects underlying submicroscopic genomic imbalance like segment duplication and deletion of the twin patients vis-à-vis their parents and unaffected siblings in these DZ twins. RESULTS: A total of 21 copy number variations (CNVs) were reported in the patient samples that did not overlap with the CNVs in normal parents and healthy sibling, including 5 loss, 3 LOH and 13 gain with size varied from 95 bp to 77 kbp. Genetic analysis revealed involvement of 12 potential genetic loci on Chr 1, 2, 3, 4, 6, 11, and 16. CONCLUSION: Genetic study found that CPC could be a developmental disorder. These findings are important for further elucidating genetic causes of CPC pathogenesis.

Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.

Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India, specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing (WES) across 18 affected samples in a total of 64 subjects. A Smith⁻Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using polymerase chain reaction (PCR), we ascertained interactions using Micro Scale Thermophoresis (MST). We report the role of lnc-EPB41-1-1 shown to be promiscuously interacting with KIF13A substantiating their role in regulation.

Author Correction: Whole exome sequencing reveals rare variants linked to congenital pouch colon.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

Whole exome sequencing reveals rare variants linked to congenital pouch colon.

We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz. OAS2, GBA3 and PKD1L2 affecting the colon tissue. While our results have paved way for transcendence of monogenic traits in identifying the genes underlying rare genetic disorders, it will provide helpful clues for further investigating genetic factors associated with anorectal anomalies, particularly CPC.

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.

Histopathological and Immunohistochemical Findings in Congenital Pouch Colon: A Prospective Study.

BACKGROUND: There is a paucity of literature on the histopathological aspects of congenital pouch colon (CPC) and immunohistochemical (IHC) assessment has not been reported. So we planned to study the histopathological and IHC findings within the spectrum of CPC and compare the findings with the normal colon. METHODS: This is a descriptive prospective study on CPC patients. There were 49 cases of CPC (42 males and 7 females) and 13 controls. Histological examination was done using hematoxylin and eosin and Masson trichrome stain. IHC analysis was done with actin, myosin, and desmin antibodies, and neuron-specific enolase and S100 markers for counting ganglionic cells. RESULTS: Histologically, congestion, edema and hemorrhage were seen in mucosa, submucosa, and serosa. Muscle layers were disrupted and divided into bands. An additional muscle coat inside of the muscularis propria was seen in CPC types 1 and 2. Mature ganglionic cells were reduced and muscle layers showed reduced and patchy positivity for smooth muscle actin, myosin, and desmin compared to a normal colon. CONCLUSIONS: Histopathological and IHC findings suggest that CPC has distinct defects in the neuromusculature.

Congenital Pouch Colon with Rectal Atresia Revisited.

We are adding two cases of congenital pouch colon with rectal atresia (RA) to the already published five cases. The presentation of RA is often delayed owing to the presence of normal anus, however, clinical evaluation, plain abdominal radiograph, and urine examination for meconuria, may help in detecting this rare association early.

Precision medicine in asthma: the role of bronchial thermoplasty.

PURPOSE OF REVIEW: The inflammatory makeup of severe asthma is heterogeneous. Identification of the predominant cellular endotype via biomarkers can aid in the selection of more advanced therapies. This review is clinically focused on how to use these biomarkers to help select between biologic agents and/or bronchial thermoplasty. RECENT FINDINGS: Several Th2 biomarkers exist for the detection of eosinophilic disease; however, the best biomarker for clinical practice is debatable depending upon local resources. Currently, there are three federal drug agency-approved biologic agents (omalizumab, mepolizumab and reslizumab) to treat severe asthma with frequent exacerbations despite standard medical therapy. Several others are either in clinical trials or in the development phase for the treatment of eosinophilic asthma. To date, agents targeting neutrophilic inflammation have been largely unsuccessful. Bronchial thermoplasty has emerged as an option for the treatment of severe asthma. SUMMARY: The appropriate selection of patients through the use of eosinophilic biomarkers has led to significant reductions in exacerbations with the use of mAb therapy. Bronchial thermoplasty has also shown reductions in asthma exacerbations and improved quality of life; however, it is unclear which patients may respond best to this intervention.