Boerhaave's syndrome is spontaneous rupture of the esophagus, a rare condition with high mortality that occurs most often after forceful vomiting. Polyethylene glycol (PEG) solution is the most common preparation used for colonoscopy. Since large volumes have to be ingested, PEG may induce severe vomiting or retching. However, Boerhaave's syndrome ...

Tumor lysis syndrome (TLS) is an oncological emergency that results from massive cytolysis of malignant cells with a sudden release of their contents into the systemic circulation. TLS was rarely described in patients with malignant melanoma. In this article, we describe two patients with malignant melanoma who developed this syndrome. ...

Abstract Purpose: To report optic disc dysplasia in a case of Poland syndrome. Design: Non-interventional case report. Methods: A 2-year-old boy with Poland syndrome was referred for ophthalmic evaluation after abnormal optic discs were found on exam. Results: Physical exam at birth revealed right-sided aplasia of the pectoralis major muscle, ...

Gut microbiota alterations are increasingly being recognized as an important factor in the pathogenesis and pathophysiology of Irritable bowel syndrome (IBS). The onset of IBS symptoms after a bout of gastroenteritis comprises one of the strongest indications for the importance of gut microbiota for IBS. Moreover, recent studies have identified ...

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of ...

Bariatric surgery represents a common approach for the control of severe morbid obesity, reducing caloric intake by modifying the anatomy of the gastrointestinal tract. Following jejunoileal bypass, a large spectrum of complications has been described, with rheumatic manifestation present in up to 20% of cases. Although bowel bypass syndrome, also ...

Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the KIF7 gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with ...

This Viewpoint gives an overview of the inherited disorders that are characterized by defects of leukocyte trafficking. Three paradigmatic diseases have been selected: WHIM, Wiskott-Aldrich and LAD syndromes. These conditions encompass defects in the steps that are required for leukocyte motility: from the response to chemokines, which is altered in ...

Baboon syndrome is a combination of diffuse symmetrical erythema on the major flexural areas and V-shaped erythema on both upper anteromedial thighs. Infectious agents have been described as possible triggers. We describe for the first time baboon syndrome in a child induced by a coinfection with Epstein-Barr virus and cytomegalovirus.

: We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding ...

Patients with gallbladder carcinoma can present with a variety of paraneoplastic syndromes, including Cushing's syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the sign of Leser-Trélat. Surgical resection of the primary tumor results in resolution of these paraneoplastic syndromes. We present a 67-year old female with facial and cervical erythema ...

Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor ...

Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. ...

PURPOSE: Janus kinase 1 (JAK1), JAK2 and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. The present study was performed to assess the association between ...

We describe a newborn with a phenotype consistent with Adams-Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams-Oliver syndrome. We review other reports of Adams-Oliver syndrome previously ...

Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of coding genes and ...

Muir-Torre syndrome represents a rare autosomal dominant familial cancer predisposition disorder defined by the occurrence of cutaneous sebaceous tumors and an internal malignancy, most commonly gastrointestinal carcinoma. Most examples of hereditary non-polyposis cancer syndrome (Lynch syndrome), including the Muir-Torre syndrome, are associated with microsatellite instability (MSI) and germline mutations in ...

Currarino's syndrome (CS) is characterized by a triad of a sacral bony defect, anorectal malformations and presacral mass, most commonly an anterior sacral meningocele. Since it was first described as a syndrome by Currarino et al. in 1981, approximately 300 cases have been reported in the literature. Diagnosis of CS ...

In recent years the phenomenon of reverse twiddler's syndrome has been described, characterized by pulse generator manipulation resulting in lead advancement rather than retraction. We describe what we believe to be the first reported case of both classic and reverse twiddler's syndrome occurring simultaneously in a patient with a biventricular ...

OBJECTIVE: To explore the relationship between Chinese medicine (CM) constitutive susceptibility and syndrome diversity in diabetic nephropathy (DN). METHODS: Epidemiologic investigation on constitution adopting the "Constitution in Chinese Medicine Questionnaire" (CCMQ), and survey on syndrome type by CM syndrome scale (preliminary) were carried out in 180 DN patients. Cluster analysis ...

We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.

Focus on: "The human Cx26-D50A and Cx26-A88V mutations causing Keratitis-Ichthyosis-Deafness syndrome display increased hemichannel activity."

BACKGROUND: Recently, there have been increasingly frequent reports on the occurrence of macrophage activation syndrome (MAS) in patients with inflammatory bowel disease (IBD). Clinically, MAS is characterized mainly by fever, hepatosplenomegaly, cytopenia, and elevated circulating ferritin and CD25. Mortality, even if diagnosed rapidly, is high. AIM: To identify all reports ...

Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorders, limb and genitourinary malformations and congenital aural atresia. On the other hand, duplications of 18q have ...

INTRODUCTION: Posterior interosseous nerve (PIN) syndrome is a rare compression neuropathy of the PIN in the region of the supinator muscle, most common by the arcade of Frohse. We aimed to specify ultrasonographic findings in patients with PIN-syndrome in comparison to healthy volunteers. MATERIALS AND METHODS: Ultrasound images and clinical ...

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane ...

Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a severe drug-induced hypersensitivity syndrome and may be observed after administration of many drugs. Clinical symptoms usually occur 2 to 8 weeks after drug introduction. Because DRESS syndrome is potentially life threatening, it is especially important to diagnose it early. ...

An adjuvant is a substance that enhances the antigen-specific immune response, induces the release of inflammatory cytokines, and interacts with Toll-like receptors and the NALP3 inflammasome. The immunological consequence of these actions is to stimulate the innate and adaptive immune response. The activation of the immune system by adjuvants, a ...

The pathogenesis of the recently recognized "red vent syndrome" in wild Atlantic salmon (Salmo salar) is not fully understood. Pathologic observations indicate that this syndrome is associated with the presence of nonencapsulated larvae of the nematode Anisakis simplex in the body wall, the lower intestinal wall, and the visceral cavity ...

Ogilvie's syndrome (OS), a massive dilation of the colon in the absence of mechanical obstruction, is a rare postsurgical complication. The high mortality rate (normally 15 - 31% and upto 45% after caecal perforation) explains the seriousness of this clinical situation. Early diagnosis is made by plain abdominal X-ray and ...

A six-year-old, neutered, female golden retriever was presented with generalised, dark purple to black cutaneous nodules and gastrointestinal haemorrhage. Histopathologically, all cutaneous nodules were diagnosed as benign cavernous haemangiomas. Endoscopic analysis revealed similar nodules in the oesophagus, stomach and duodenum. At laparotomy, similar nodules were seen on the visceral peritoneal ...

DRESS syndrome is a severe adverse drug-induced reaction, characterized by generalized skin rash associated with hypereosinophilia, lymphocytosis and internal organ involvement. Antiepileptics, sulfamides and allopurinol are the most frequently reported drugs; vancomycin is less common. We report a case of vancomycin-induced DRESS syndrome in a 69-year-old male patient. Clinical symptoms ...

Jaffe-Campanacci syndrome (JCS) is a well-known condition with its clinical and radiological characteristics. Extraskeletal congenital anomalies of this syndrome include café-au-lait spots, mental retardation, cardiovascular abnormalities, ocular deformities, hypogonadism or cryptorchidism. Multiple non-ossifying fibromas are also characteristic bone lesions. In this article, we present a new syndrome mimicking JCS, which ...

We describe a 50-year-old man who first presented with multiple skin lesions which were characteristic of Degos' syndrome. The patient developed multiple episodes of abdominal pain. Some episodes resolved with conservative management, for others he underwent urgent operations for bowel perforations. The patient subsequently underwent extensive small bowel resection, but ...

Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria. It is caused by mutations in LAMB2, which encodes laminin β2. Approximately 50 mutations of LAMB2 from approximately 40 unrelated families have been identified; however, most of them were from Western countries. Although ...

BACKGROUND: The association between inflammatory bowel disease (IBD) and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome (SAPHO syndrome) was first reported in 1992. To date, only case reports and short series have been published. AIMS: The purpose of this study was to report new cases and systematically review the literature on ...

The subclavian steal syndrome is characterized by retrograde flow within a vertebral artery ipsilateral to proximal subclavian artery high-grade stenosis or occlusion. It can cause vertebrobasilar insufficiency and hence diverse brainstem symptoms. Peduncular hallucinosis consists of visual images of brief duration that are related to thalamic or rostral brainstem lesions. ...

Sweet's syndrome (acute febrile neutrophilic dermatosis) is an infrequent skin disease characterized by sudden onset of fever, leucocytosis and erythematous plaques or nodules infiltrated by neutrophils. There are three main clinical settings in which Sweet's syndrome has been described: classical or idiopathic Sweet's syndrome, malignancy-associated Sweet's syndrome and drug-induced Sweet's ...

As a rule, travelers' diarrhea is a self-limited bacterial infection that affects approximately 40 % of travelers to developing countries. Health-care professionals who see returning travelers have noted that some travelers afflicted with diarrhea do not recover completely but, instead, develop chronic diarrhea or a persistent change in gastrointestinal function. ...

Frey's syndrome, is characterized by warmth, flushing and sweating of the face, most of time in the preauricular region, initiated by any gustatory stimulus. It is frequently related to parotid surgery. A case of Frey's syndrome in a 81-year-old female whose long-delayed clinical onset post-parotidectomy is presented.

Cold Syndrome and Hot Syndrome are thousand-year-old key therapeutic concepts in traditional Chinese medicine (TCM), which depict the loss of body homeostasis. However, the scientific basis of TCM Syndrome remains unclear due to limitations of current reductionist approaches. Here, we established a network balance model to evaluate the imbalanced network ...

Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has been identified to help classify the pathogenicity of missense variants.

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) ...

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, ...

We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid. Further testing revealed cardiac defects. The finding of a lipodermoid in Emanuel syndrome demonstrates phenotypic ...

We report on a 25-year-old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas, lipomas, juvenile, and hyperplastic polyps in association with extra-intestinal tumors including a retroperitoneal lipoma, storiform collagenoma, and a fibrolipomatous hamartoma. PTEN mutation analysis identified a deletion in exon 2, confirming ...

Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI ...

A 66-year-old male patient presented with nausea, abdominal pain, occasional rectal bleeding, progressive dysgeusia, onicodystrophy, and alopecia. Endoscopic exam and biopsies revealed severe atrophy and diffuse marked edema of mucosa of stomach and duodenum. No evidence of polyps was found in any portion of the gastrointestinal tract. The diagnosis of ...

Abstract Background:The purpose of this analysis was to provide a concise report of the literature on the burden of intestinal failure associated with short bowel syndrome (SBS-IF) in adults, focused on clinical and humanistic issues important to clinicians and payers. Scope: A literature search was performed using the National Library ...

Background:Short bowel syndrome (SBS) is the most common cause of neonatal intestinal failure. Recovery requires intestinal adaptation, dependent on enteral nutrition (EN) and growth factors like glucagon-like peptide-2 (GLP-2), secreted from L cells in the ileum. The usual causes of neonatal SBS often result in loss of ileum; therefore we ...