Illegal wildlife trade poses a significant threat to Indonesia's biodiversity, especially among its diverse Felidae species (cats). While molecular methods have proven effective for identifying some Felidae species, there remains a gap in comparing these techniques across different endemic Felidae species in Indonesia, particularly in cases involving multiple species in confiscated wildlife products. This study applies DNA forensic techniques to analyze 38 confiscated Felidae samples, identifying four species: Sumatran tiger (Panthera tigris sumatrae), leopard (Panthera pardus), leopard cat (Prionailurus bengalensis), and clouded leopard (Neofelis nebulosa).
View Article and Find Full Text PDFLittre's hernia is a rare type of hernia in which Meckel's diverticulum is found in the hernia sac. While most cases present with incarceration, incidentally discovered cases of Littre's hernia without incarceration are even rarer. A three-month-old boy was referred to our hospital with a three-month history of right inguinal swelling.
View Article and Find Full Text PDFBackground: Accessory scrotum is a congenital scrotal anomaly that is usually located anterior to the anus and frequently presents with a lipoma in a bead-like shape. Herein, we present an unusual case of an accessory scrotum with a lipoma connected by a narrow stalk and located posterior to the anus.
Case Presentation: A 1-month-old boy was referred to our hospital for a perineal mass present at birth.
The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients. This gene variant leads to systemic microvasculopathy, which manifests as brain, ocular, renal, and muscular disorders. However, only a few patients with surgical interventions have been reported and the potential surgical risks are unknown.
View Article and Find Full Text PDFBackground: Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder characterized clinically by recurrent episodes of nonpruritic subcutaneous and/or submucosal oedema. Laryngeal oedema is the commonest cause of mortality in patients with HAE. Prior to the availability of first-line treatment options for the management of HAE, mortality was as high as 30%.
View Article and Find Full Text PDFBackground: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.
Objectives: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.
Purpose: Thoracoscopic repair (TR) of congenital diaphragmatic hernia (CDH) is associated with a higher recurrence rate than the conventional open method. We evaluated the effectiveness of our strategy for quality improvement, named "tension-free TR of CDH".
Methods: The subjects of this retrospective analysis were 11 consecutive patients with CDH who underwent TR at our hospital between 2017 and 2021.
Triple-negative breast cancer is one of the most lethal cancers. Chemotherapeutics for targeting CDK4 and CDK6 like Palbociclib (PAB) in triple-negative breast cancer was widely explored. However, poor bioavailability and severe side effects profile limiting its clinical usage in the field of cancer chemotherapy.
View Article and Find Full Text PDFJ Laparoendosc Adv Surg Tech A
September 2022
Hydrocele of the canal of Nuck (HCN) is a rare cause of inguinal swelling in women. The optimal surgical procedure for HCN in children remains unclear. To assess the safety and efficacy of laparoscopic percutaneous extraperitoneal closure (LPEC) for HCN in a pediatric population, a retrospective study was conducted.
View Article and Find Full Text PDFBackground: Duplication cysts close to the ileocecal valve are usually treated with ileocecal resection. However, loss of the ileocecal valve will lead to problems, especially in infants. Mucosectomy of the cyst would be a better alternative that preserves the ileocecal valve.
View Article and Find Full Text PDFBackground: Congenital tracheal stenosis (CTS) is a rare and life-threatening airway disorder, which is often associated with cardiac malformations. Among them, neonatal symptomatic CTS with cardiac malformations has an extremely poor prognosis. In contrast to cardiac malformation, congenital diaphragmatic hernia (CDH) has rarely been associated with CTS.
View Article and Find Full Text PDFHepatopulmonary syndrome (HPS) is a disease of gas exchange caused by intrapulmonary shunting secondary to liver disease-associated intrapulmonary vascular dilation. HPS is characterized by the triad of cirrhosis, chronic liver disease, or portosystemic shunting (PSS); arterial hypoxemia; and intrapulmonary arteriovenous shunting in the absence of a primary cardiopulmonary anomaly. We encountered a rare case of HPS without liver disease or PSS.
View Article and Find Full Text PDFAccessory scrotum (AS) is rarely diagnosed antenatally, and its prenatal features remain unknown. Here, we report a case of a prenatally diagnosed accessory scrotum with perineal lipoma. A 33-year-old woman was referred to our hospital at 35 weeks of gestation to evaluate a mass in the fetal perineal region.
View Article and Find Full Text PDFBackground: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of genetic autosomal recessive diseases that cause severe cholestasis, which progresses to cirrhosis and liver failure, in infancy or early childhood. We herein report the clinical outcomes of surgical management in patients with four types of PFIC.
Case Presentation: Six patients diagnosed with PFIC who underwent surgical treatment between 1998 and 2020 at our institution were retrospectively assessed.
Neurodegenerative diseases like Alzheimer's disease require treatment where it is essential for drug to reach brain. Nose to brain delivery of drugs enables direct transport to brain bypassing blood brain barrier. Imatinib mesylate, an anti-cancer agent, was found to have potential anti-Alzheimer's activity and thus repurposed for the same.
View Article and Find Full Text PDFPurpose: Portoenterostomy is the standard treatment for biliary atresia (BA) that reduces jaundice in two thirds of cases. However, progressive liver fibrosis is common, leading to cirrhosis in most patients. Autotaxin is a new marker for the progression of hepatic fibrosis.
View Article and Find Full Text PDFPurpose: We compared the efficacy of thoracoscopic repair (TR) with that of open repair (OR) for neonatal congenital diaphragmatic hernia (CDH).
Methods: The subjects of this multicenter retrospective cohort study were 524 infants with left-sided isolated CDH, diagnosed prenatally, and treated at one of 15 participating hospitals in Japan between 2006 and 2018. The outcomes of infants who underwent TR and those who underwent OR were compared, applying propensity score matching.
Kawasaki disease (KD) is a medium vessel vasculitis that predominantly affects children below 5. Diagnosis of KD is based on the presence of characteristic clinical manifestations as there are no definite diagnostic laboratory investigations for the diagnosis of this disease. Presence of atypical clinical features such as myositis often pose diagnostic challenge for the treating physicians.
View Article and Find Full Text PDFBackground: There is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.
Methods: Data on XLA from all regional centers supported by the Foundation for Primary Immunodeficiency Diseases (FPID), USA and other institutions providing care to patients with PIDs were collated.
Background: Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity.
Case Presentation: Three female infants born to a Japanese mother presented with CPA at birth.
Pediatr Surg Int
February 2021
Purpose: Portoenterostomy (PE) is the standard treatment for biliary atresia (BA). However, micro-bile ducts are difficult to identify with surgical loupes and dissect systematically. We report the effects of our attempts to dissect hilar tissue using a surgical microscope.
View Article and Find Full Text PDFJ Laparoendosc Adv Surg Tech A
January 2021
We performed thoracoscopic costal cartilage excision (TCCE) combined with the Nuss procedure to correct asymmetrical pectus excavatum (PE). We reviewed the efficacy of combined TCCE and Nuss procedure for asymmetric PE. Overall, 8 patients with asymmetrical PE underwent TCCE with the Nuss procedure.
View Article and Find Full Text PDF