Joubert syndrome(JS), was first discovered by Marie Joubert, which is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. A 27-years-old woman referred our clinic for advanced research over detection fetal renal cyst.We observed policycstic kidney in detailed examination.INPP5E detected on chorion villus sampling.We were thought may be this...

 Abstract Acute inflammation of the gallbladder can occur without gallstones. Acalculous cholecystitis typically develops in critically ill patients in the intensive care unit. Patients on parenteral nutrition, with extensive burns, sepsis, major operations, multiple organ trauma or prolonged illness with multiple organ system failure are at risk for developing acalculous cholecystitis. The ass...

Introduction. There is a lot of evidence that coronavirus disease 2019 has various manifestations. This paper presents report two cases with the aim to indicate multifactorial etiology confusional states in patients mental disorders at time pandemic. The severe acute respiratory syndrome coronavirus-2 affects not only and cardiovascular systems, but also brain, kidneys other organ systems. One ...

Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job's syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent...

Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...

Primary systemic amyloidosis is a rare disorder that has multisystemic manifestations. The diagnosis is very diffi cult because of non-specifi c clinical signs. We report a patient with primary systemic amyloidosis manifesting as peripheral neuropathy, nephrotic syndrome, gastrointestinal syndrome, orthostatic hypotension, pericardial fl uid, weight loss and so on. Histopathological examination...

. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients. In our 10-year-old patient, who was negative in the PTPN11 gene anal...

Oblique vaginal septum syndrome (OVSS) is a rare congenital disorder characterized by uterus didelphys, hemivaginal septum, and unilateral renal agenesis. Its clinical characteristics vary among different patients. Herein we report case of OVSS with difficulty in defecation as the initial symptom diagnosed ultrasound laparoscopic exploration. This 13-year-old girl was admitted to our hospital c...

The syndrome of multiple organ failure has been recognised as a distinc t entity since the 1970s, and is the leading cause of mortality in intensive care1. It was subsequently appreciated that patients develop a spectrum of organ dysfunction which may or may not require pharmacological (eg inotropic) or mechanical (eg ventilation) support. This led to the coining of a new syndrome, multi-organ ...

This article revisits the links between psychopathology and functional gastrointestinal disorders such as irritable bowel syndrome (IBS), discusses the rational use of antidepressants as well as non-pharmacological approaches to the management of IBS, and suggests guidelines for the treatment of IBS based on an interdisciplinary perspective from the present state of knowledge. Relevant publishe...