Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28-year-old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several ...

Background: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has ...

About 120 million people worldwide suffer from congenital (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing loss. In addition, a large number of elderly people worldwide suffer from age-related (late-onset) hearing loss. c-Ret and c-RET have been shown to be ...

Parkinson disease (PD) and restless legs syndrome (RLS)(1) have few clinical features in common, but they both typically respond to dopaminergic drugs. Current evidence suggests that idiopathic RLS is not a significant risk factor for developing PD. Whether "true" RLS exists in PD, is more prevalent in PD than in ...

The four red-flowered, apparently bird-pollinated Lotus species from the Canary Islands have previously been classified in their own genus, Rhyncholotus. Currently, they are considered as a separate section within genus Lotus, distinct from other herbaceous Canarian congeners which are yellow-flowered and bee-pollinated. A combined analysis of four nuclear regions (including ...

The purpose of this project was to study the efficacy of quantitative muscle hardness (QH) curve analysis for noninvasive measurement of muscle compartment interstitial pressure (IMP), and to eliminate the need for a comparison normal QH measurement to determine a pathologic reading. Elevation of IMP may lead to limb compartment ...

OBJECTIVES: To develop a targeted aneuploidy and microdeletion detection platform for use in the prenatal setting, to assess the integrity of the platform with a robust validation system, and to prospectively determine the performance of the platform under routine clinical conditions. METHODS: To generate proxies for the various disorders assessed ...

Autosomal dominant hyperimmunoglobulin E syndrome (HIES, or Job syndrome) is a rare primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eosinophilia, recurrent skin and pulmonary infections, dermatitis, and connective tissue and skeletal abnormalities. A 26-year-old male with known HIES presented with abdominal pain and diarrhea. Imaging showed sigmoid diverticulitis without ...

Jasperson KW, Samowitz WS, Burt RW. Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin. Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to ...

A pair of 2 serial abdominal images show Ogilvie syndrome in a patient after cardiac surgery with the subtle but classic x-ray transition from a nonperforated to a perforated colon.

McKittrick-Wheelock syndrome is a rare but recognised complication of hypersecretory rectosigmoid villous adenoma. Fluid and electrolyte imbalances require close monitoring because of large-volume losses of water, sodium and potassium. We report an unusual presentation of the syndrome associated with the development of acute pseudo-obstruction of the colon, presumably due to ...

Background: It is uncommon for emergency physicians to discover a patient with circulatory failure resulting from chronic diarrhea. Objectives: We describe McKittrick-Wheelock syndrome, a rare disorder characterized by volume and electrolyte depletion and caused by colonic neoplasm. Case Report: The case of a 30-year-old woman who came to the Emergency ...

Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease ...

Cronkhite-Canada syndrome (CCS) is a rare, noninherited gastrointestinal polyposis syndrome associated with characteristic ectodermal abnormalities. Here, we report a case of Cronkhite-Canada syndrome with cecal intussusception relieved by colonoscopy. A 52-year-old man who was diagnosed as CCS pathologically two years previously presented abdominal pain and sub fever-up. Physical examination revealed ...

We evaluated the prevalence of positive potassium sensitivity and cystoscopy with hydrodistention findings in patients with overactive bladder. This was a prospective cohort study of 98 patients who presented with overactive bladder symptoms. The diagnosis of overactive bladder is established by the presence of irritable voiding symptoms. All patients completed ...

Caudal duplication syndrome is a very rare congenital deformity. A 13-year-old boy was born with duplicated colon-rectum and anus, diphallus, hydronephrosis of left kidney with megaureter, double bladders and urethras, and vertebral abnormalities. Multiple-stage correction was performed to remove the duplicated colon and the mucosa of the duplicated rectum. A ...

Intrathoracic gastric volvulus is extremely rare in the newborn period. The authors describe the case of a newborn with unusual combination of intrathoracic gastric volvulus and Marfan's Syndrome and discuss its management.

AIMS: Lynch syndrome-associated tumours are characterized by the presence of an increased number of tumour-infiltrating lymphocytes. This enhanced lymphocytic response may be elicited by genetically altered proteins that may arise as a result of a defective DNA mismatch repair system. The aim was to investigate this hypothesis by correlating loss ...

Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our ...

Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with ...

Vasoactive intestinal polypeptide (VIP) is known to cause the watery diarrhea, hypokalemia, and achlorhydria syndrome. A 14-year-old girl was admitted with a 4-year history of persistent uncontrollable diarrhea and hypokalemia. Computed tomographic evaluation of the neck, chest, and abdomen were normal. Numerous polyps covering the entire colon and rectum were ...

Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin ...

Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is a precancerous lesion with a well-described progression to carcinoma. This case report describes a 61-year-old woman with a history significant for multiple cancers and a confirmed germline mutation of MSH2, a mismatch repair gene responsible for Lynch syndrome, who was also ...

We show that the Cohen-Glashow very special relativity (VSR) theory [A. G. Cohen and S. L. Glashow, Phys. Rev. Lett. 97, 021601 (2006)] can be realized as the part of the Poincaré symmetry preserved on a noncommutative Moyal plane with lightlike noncommutativity. Moreover, we show that the three subgroups relevant ...

Turcot's syndrome (glioma-polyposis) is a rare hereditary disorder characterized by association of colonic polyposis with primary tumors of the central nervous system. We report a case of a 27-year-old male diagnosed with Turcot's syndrome after an autopsy. The patient survived for more than two decades after his initial presentation with ...

Ehlers Danlos Syndrome (EDS) is a collective term for a number of connective tissue disorders. Vascular rupture and dissection are well-documented sequelae as is gastrointestinal perforation. We present a rare presentation where dissection of the bowel wall presented as a suspected sigmoid colon tumour.

The Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyposis of the gastro-intestinal (GI) tract, with mucocutaneous pigmentation. We have experienced a case of a 10-year-old girl who presented with PJS, intussusception, colonic perforation and colonic adenocarcinoma. Finally, this case developed airway obstruction from the mediastinal mass. In order to prevent ...

Congenital pouch colon syndrome is partial or complete replacement of the colon by a pouch-like structure and anorectal malformation. Commonly reported from northern India, we believe this is the first report of congenital pouch colon syndrome in a Saudi Arabian neonate. He was referred with an imperforate anus and diagnosed ...

Tribosphenic molars of basal marsupials and placentals are a major adaptation, with the protocone (pestle) of the upper molar crushing and grinding in the talonid basin (mortar) on the lower molar. The extinct pseudo-tribosphenic mammals have a reversed tribosphenic molar in which a pseudo-talonid is anterior to the trigonid, to ...

PURPOSE: Idiopathic overactive bladder syndrome is a common disorder, especially in women. Of various pathophysiological factors several studies suggest a specific dysfunction of the autonomic nervous system. To verify this hypothesis we compared heart rate variability parameters, which provide an analysis of autonomic function, in women with idiopathic overactive bladder ...

Whereas the generally accepted carcinogenesis pathway of the microsatellite instabile high (MSI-H) colorectal carcinoma (CRC) involves the traditional adenoma in patients with Lynch syndrome, a serrate pathway involving serrate adenomas (SA) and sessile serrate polyps (SSP) characterize the sporadic MSI-H counterpart. Recent studies have, however, challenged such simple one-pathway models, ...

Smog chamber/FTIR techniques were used to study the atmospheric chemistry of the Z and E isomers of CF3CF=CHF, which we refer to as CF3CF=CHF(Z) and CF3CF=CHF(E). The rate constants k(Cl + CF3CF=CHF(Z)) = (4.36 +/- 0.48) x 10-11, k(OH + CF3CF=CHF(Z)) = (1.22 +/- 0.14) x 10-12, and k(O3 + ...

Around 1.5% of adults in Europe and the USA have urge urinary incontinence (involuntary leakage immediately preceded or accompanied by urgency). This is usually due to overactive bladder syndrome (defined as urgency, with or without urge incontinence, and usually with frequency and nocturia), which occurs in around 12% of adults, ...

Colorectal cancer (CRC) forms through a series of histologic steps that are accompanied by mutations and epigenetic alterations, which is called the polyp-cancer sequence. The role of epigenetic alterations, such as aberrant DNA methylation, in the polyp-cancer sequence in sporadic CRC and particularly in hereditary colon cancer is not well ...

Here, we report a case of Cronkhite-Canada syndrome in a patient with schizophrenia. A 64-year-old man, who had been diagnosed as having a schizophrenic disorder at the age of 30, presented with alopecia, atrophic nail changes, hyperpigmentation of the skin, and inflammatory polyposis of the stomach and colon. Endoscopic ultrasonography ...

Acute colonic pseudo-obstruction (Ogilvie's syndrome) is characterised by abdominal distension and massive colonic dilatation without any mechanical cause of obstruction. The pathogenesis remains unknown but likely involves imbalance between sympathetic and parasympathetic colon innervation. This syndrome is well known in orthopaedic surgery, as trauma and orthopaedic surgery have been reported ...

Cavernous hemangioma of the colon is a rare cause of gastrointestinal bleeding. These lesions can be encountered as solitary, multiple, or part of a more complex syndrome with cutaneous manifestations. We herein describe a 26-year-old woman with cavernous hemangioma involving the rectosigmoid area. Additional hemangiomas were identified in the pelvic ...

Gastrointestinal duplications are a common type of congenital anomaly usually restricted to one part of the gut. Triplication of colon is a rare variation of duplication of the hindgut. Hindgut duplications are commonly associated with anomalies of other derivatives of the cloaca, namely, the lower genitourinary system. Here, we describe ...

A 65-year-old man presented with a history of multiple skin coloured papules on his face that were asymptomatic. He had an adenocarcinoma resected from his proximal colon 12 years prior to presentation as well as a family history of colon cancer on the maternal side. Diagnostic biopsies showed the lesions ...

Retroarterial colon is a rare entity in which the colon is located behind the superior mesenteric vessels. Transmesenteric internal hernias result in portions of the bowel protruding through a defect in the mesentery and are often acquired but may be congenital. We report a 10-year-old female with trisomy 13 who ...

INTRODUCTION: Attenuated adenomatous polyposis coli (AAPC) is a variant of the familial adenomatous polyposis (FAP) characterized by the occurrence of sparse polyps in the colon, stomach, and duodenum with a late onset of colorectal cancer. The AAPC syndrome is associated with mutations at the 5' region of the APC gene. ...

We searched for scalar bottom quarks 156 pb(-1) of pp collisions at radicalS = 1.96 recorded by the Collider Detector at Fermilab II experiment at the Tevatron. Scalar bottom quarks can be produced from gluino decays in -parity conserving models of supersymmetry when the mass of the gluino exceeds that ...

Colonic duplication is a rare congenital anomaly which presents as a diagnostic and therapeutic challenge. We report a 5-year-old boy with colonic duplication who required multiple hospital admissions, multiple diagnostic tests, and evaluation by various clinical specialists before the diagnosis was made intraoperatively. He was known to have left renal ...

A patient with Proteus syndrome presented with lower gastrointestinal bleeding due to multiple colonic hemangiomas, a finding which has not been described previously in this syndrome. The patient was a 20-year-old man with features fulfilling the diagnostic criteria for Proteus syndrome. He fulfilled both general criteria (mosaic distribution of the ...

Williams Syndrome (WS) is a condition with multisystemic involvement caused by a genetic deletion in chromosome 7. Colonic diverticulosis has been described in adults with WS; however, it has not previously been reported in adolescents with WS. We report an adolescent boy with WS who developed complicated colonic diverticulitis and ...

Gardner's syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumors. The syndrome may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a ...

Botulism is a rare disease with 4 naturally occurring syndromes: foodborne botulism is caused by ingestion of foods contaminated with botulinum toxin, wound botulism is caused by Clostridium botulinum colonization of a wound and in situ toxin production, infant botulism is caused by intestinal colonization and toxin production, and adult ...

Acute Colonic pseudo-obstruction (Ogilvie's syndrome) is common occurrence in both the ICU and long-term acute care units. If not treated in time, it may lead to Colonic perforation or ischemia. Recent report showed that intravenous neostigmine, an acetylcholienastrase inhibitor, produces rapid colonic decompression in patients with acute colonic pseudo-obstruction (ACPO). ...

Ogilvie's syndrome was first described by Sir Heneage Ogilvie in 1948 and is a rare disorder comprising acute colonic pseudo obstruction (ACPO) with gross dilation of the caecum and right hemicolon (occasionally extending to the rectum) without an anatomic lesion that obstructs the aboral flow of intestinal contents. A sixty ...

Ogilvie's syndrome is an uncommon disorder of acute colonic pseudoobstruction that is often associated with concomitant medical disease or psychiatric medication. Therapeutic interventions include cholinesterase inhibitors, colonic decompression, and, in severe cases, surgery. We report a case of functional obstruction that was resolved after spinal anesthesia. The effect of spinal ...