Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.
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PMID:Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. 1243 2

A case is described of a 47-year-old man with achondroplasia who presented with lower back pain radiating to his left loin. An intravenous urogram (IVU) showed hydronephrosis on the left side and a dilated left ureter passing down into the left inguinal region. A CT scan confirmed a left inguinal hernia containing the left ureter causing ureteric obstruction. The hernia was repaired using the Lichtenstein technique with the ureter replaced retroperitoneally. A postoperative IVU showed recovery in renal function but with a persistently dilated left ureter that was not obstructed. A review of the literature regarding inguinal herniation involving the ureter is presented.
Hernia 2003 Jun
PMID:An unusual cause of back pain in an achondroplastic man. 1282 33

We report a case of a huge inguinal/scrotal bladder hernia presenting as acute renal failure. A 66-year-old man with a large scrotal mass presented with metabolic acidosis and azotemia and was admitted to the intensive care unit. Computed tomography displayed the bladder completely herniated into the scrotum and bilateral hydronephrosis. After stabilization and percutaneous nephrostomy placement, the patient's creatinine markedly improved, and the hernia was repaired. Bilateral ureteral obstruction from a bladder hernia is a very rare event. Computed tomography is rapid and helpful in this situation. Hernia repair can safely be performed after nephrostomy drainage.
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PMID:Acute renal failure resulting from huge inguinal bladder hernia. 1524 57

Herniation of the ureter occurs infrequently in a sliding inguinal hernia. Massive herniation may cause ureteral obstruction leading to hydronephrosis. Computed tomography can demonstrate both ureteral herniation and associated hydronephrosis.
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PMID:Obstructive uropathy secondary to ureteroinguinal herniation. 1698 19

Complete and isolated herniation of the urinary bladder is extremely rare, and the consecutive appearance of bilateral urethral obstruction and renal failure is even rarer. We report about a 73 year old male presenting with massive nausea and muscular weakness. On physical examination he showed a giant inguinal hernia with involvement of the entire bladder along with evidence of bilateral hydronephrosis. His serum creatinine and potassium levels were markedly elevated most likely leading to his presenting symptoms of azotemia (nausea) and hyperkalemia (weakness). After transscrotal drainage and decompression of the bladder, a transurethral catheter was inserted. After gaining full renal recovery, the hernia was repaired successfully performing the Lichtenstein procedure.
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PMID:[Subacute weakness of the lower limbs]. 1786 9

We report a case of a large inguino-scrotal bladder hernia presenting with obstructive lower urinary symptoms and causing massive unilateral uretero-hydronephrosis with ipsilateral renal function deterioration. Careful anamnesis and computer tomography (CT) scan of the abdomen and pelvis were important for the diagnosis. Open surgery with mesh hernia repair was successful. The obstructive lower tract symptoms subsided following surgery while the deteriorated renal unit regained only part of its function.
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PMID:Obstructive uropathy secondary to inguinal bladder hernia: case report and review of the literature. 1816 30

A 23-year-old woman was evaluated for right flank pain of one year duration. Magnetic resonance imaging (MRI) revealed a 6 cm defect in the right hemidiaphragm with herniation of the right kidney, adrenal gland, and posterior right hepatic lobe consistent with a congenital right Bochdalek hernia. Computed tomography (CT) urogram confirmed lack of masses, hydronephrosis, and renal calculi and defined vascular and ureteral anatomy through the diaphragmatic hernia. Intrathoracic kidney is rare and is usually discovered incidentally. In the absence of other renal pathology it requires no surgical intervention.
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PMID:Right-sided intrathoracic renal ectopia with Bochdalek's hernia. 1860 50

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele.
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PMID:Parental age as a risk factor for isolated congenital malformations in a Polish population. 1933 37

Fryns syndrome (FS) is a rare early lethal autosomal recessive disorder. The diagnosis is clinical since the underlying molecular defect is currently unknown. We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/nail hypoplasia. Based on the recently published diagnostic guidelines, our patient fits the narrow definition of FS. Only a minority of FS patients surviving the neonatal period have been reported, thus limiting the recognition of the infantile phenotype. We compared the features observed in our proband with those of 10 published survivors. Neurological impairment ranging from mild to severe was present in all patients, while seizures manifested in one third of them, often in association with central nervous system malformations. Other characteristic features included central-paracentral corneal clouding, coarsening of the facial traits, gastroesophageal reflux, Hirschsprung disease, intestinal malrotation, hydronephrosis and vescico-ureteral reflux. These manifestations are representative of the natural history of this condition and should also be searched for in FS survivors.
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PMID:A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 1980 39

We report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 (LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia. Three of the four patients died of respiratory failure. Cardiovascular lesions were mild, limited to pulmonary artery stenosis and patent foramen ovale. Gastrointestinal malformations included diverticulosis, enlargement, tortuosity, and stenosis at various levels of the intestinal tract. The urinary tract was affected by diverticulosis and hydronephrosis. Joint laxity and low muscle tone contributed to musculoskeletal problems compounded by postnatal growth delay. Craniofacial features included microretrognathia, flat midface, receding forehead, and wide fontanelles. All patients had cutis laxa. Four of the five identified LTBP4 mutations led to premature termination of translation and destabilization of the LTBP4 mRNA. Impaired synthesis and lack of deposition of LTBP4 into the extracellular matrix (ECM) caused increased transforming growth factor-beta (TGF-beta) activity in cultured fibroblasts and defective elastic fiber assembly in all tissues affected by the disease. These molecular defects were associated with blocked alveolarization and airway collapse in the lung. Our results show that coupling of TGF-beta signaling and ECM assembly is essential for proper development and is achieved in multiple human organ systems by multifunctional proteins such as LTBP4.
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PMID:Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. 1983 10


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