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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/ yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening test consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormore (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected amont 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of request for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goiter. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.
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PMID:Neonatal hypothyroidism detected by the Northwest Regional Screening Program. 10 59

A new case of the 9p- chromosome-deletion syndrome is described. The 9p-chromosome, identified by the G-, R-, Q- and G11-banding techniques, showed mainly a deletion of bands p23 and p24. Routine chromosome analysis and banding studies in the parents revealed normal chromosomes in the mother and a balanced t (9p-; 15q+) translocation in the father. The main clinical features of the proband are narrow cranium, prominent forehead, flat occiput, hyperteloris, flat bridge of the nose, long upper lip, micrognathia, low-set and abnormal ears, short, broad neck, wide-set nipples, systolic murmur, umbilical hernia, diastasis musculi recti, short arms and broad thumbs, equinovarus adductus, hypotonia and psychomotor retardation. These clinical findings are compared with those of the three 9p- cases found in the literature.
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PMID:The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation. 120 32

Congenital hypothyroidism is a relatively common endocrine disorder, affecting one in 4000 newborn infants. Undiagnosed and untreated congenital hypothyroidism will result in un-toward consequences, including mental retardation and other significant neurologic sequelae. For these reasons, programs to screen newborns were developed to detect congenital hypothyroidism before clinical features become obvious enough to suggest the diagnosis. The most common clinical features include prolonged jaundice, skin mottling, hypotonia, umbilical hernia, constipation, and macroglossia. Congenital hypothyroidism may be caused by several different disorders; ectopic thyroid glands represent the most common cause. There is accumulating evidence that autoimmune thyroid disease as manifested by TBII may be the cause of thyroid dysgenesis in some cases. The diagnosis is easily confirmed by finding a low serum free T4 or total T4 and elevated serum TSH concentration. The treatment of choice is levothyroxine; these infants must be followed carefully to ensure normal growth and development and maintenance of serum T4 and TSH within the normal ranges. With appropriate treatment and follow-up, the large majority of these infants have an excellent prognosis, with an IQ no different from comparison populations. However, it appears that there is still a small percentage of infants who are the most severely affected, who manifest the lowest serum T4 levels, thyroid aplasia, and retarded bone ages, and who may run the highest risk for some degree of retardation and other neurologic sequelae. Acquired hypothyroidism is also a relatively common disorder, occurring in one in 500 to one in 1000 school-age children. These children most commonly have a slowdown in growth, short stature, a goiter, and a drop in school performance. Other clinical features may be subtle or absent except in more severe or long-standing cases. The most common cause is chronic lymphocytic thyroiditis. The diagnosis is easily established by finding low serum-free T4 or total T4 and elevated serum TSH concentrations. Again, levothyroxine is the treatment of choice. With appropriate treatment and follow-up, all clinical features that develop after age 3 should be reversible and the prognosis should therefore be very good.
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PMID:Diagnosis and treatment of hypothyroidism in children. 331 7

A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).
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PMID:Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter). 654 39

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. 674 43

After a very precise anatomical review, the authors report the results of an anatomo-radiological study involving 244 urography films. The usual length of the 12th rib is 11 cm, with a width of 1 cm in the female and 1.5 cm in the male. The costo-lumbar angle was 45 degrees in 3/4 of the films. The kidney was often lower in the female than in the male. The renal artery was almost always given off at the level of the 12th rib or below, whilst at the level of the hilum, the renal artery and 12th rib having crossed, the artery was always above the 12th rib. Study of 173 usable cases of patients operated upon by lumbotomy revealed the following data: --lumbotomies on the 12th rib never opened the pleura, and gave rise to transient wall pain (7%) and one single case of abdominal wall hypotonia (1.4%) with no incisional hernias; --lumbotomies over the 11th rib were associated with 13% of cases of damage to the pleura, 16% of spontaneously resolving wall pain, 7 cases of prolonged parietal hypotonia and one incisional hernia out of 60 lumbotomies; --lumbotomies sub-jacent to the 12th rib were associated with residual abdominal wall pain in 3 cases out of 16. Lumbotomies over the 11th rib are associated with the risk of section of the superficial and deep abdominal branch of the 12th nerve and are hence those exposing to the greatest risk of abdominal wall hypotonia and neuralgia. Incision over the 12th rib would thus appear to be that associated with the least abdominal wall complications.
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PMID:[Anatomical study of the twelfth intercostal nerve and oblique lumbotomies (author's transl)]. 727 7

We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.
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PMID:"C" trigonocephaly syndrome with diaphragmnatic hernia. 754 53

Congenital diaphragmatic hernia (CDH) has been associated with a high mortality rate. The purposes of this study were to determine the impact of extracorporeal membrane oxygenation (ECMO) on the survival of infants with CDH and to document the sequelae and 1-year neurodevelopmental outcome for CDH infants who required ECMO. Thirty neonates with CDH were admitted between May 7, 1990 and October 1, 1992. Twenty required ECMO and were enrolled in our neonatal follow-up program. Information about the infants' neonatal course was obtained from chart review, and the infants were seen at 3, 6, and 12 months of age for medical and neurodevelopmental follow-up. Primary diaphragmatic repair was performed in 13 infants. Five required Goretex graft reconstruction (GGR), and two did not have repair. Sixteen (80%) of the 20 infants who required ECMO survived. The overall survival rate increased from 31% (10 of 32) in the 5 years previous to the start of the ECMO program to 63% (19 of 30) since then (P = .01). The most common sequelae noted by the time of discharge included gastroesophageal reflux (GER; 81%), the need for tube feeding (69%), and chronic lung disease (CLD; 62%). At 1 year of age, mean cognitive skills were average (87 +/- 23) and motor skills were borderline (75 +/- 24) according to the Bayley Scales of Infant Development. Hypotonia was present in 10 of 13 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Outcome for infants with congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation: the first year. 772 8

Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.
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PMID:Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. 780 64

A case of bladder hernia in a 61 years old patient affected by benign prostatic hypertrophy is presented. Pre-operative diagnosis was made by cystography. After an adenomiomectomy of the prostate, the patient underwent the resection of the herniated bladder which gave the bladder its normal shape with only a slight reduction of its capacity. Inguino-scrotal bladder hernias are very rare; recognized predisponing factors are weakening of muscular and connective structures of the inguinal canal, and bladder hypotonia secondary to urethro-prostatic obstruction. These hernias, according to the anatomical position of the hernial sac, bladder and peritoneum, are classified in paraperitoneal (most frequent), intraperitoneal and extraperitoneal. The typical symptom of this disease is the two-stage micturition: the patient after a first spontaneous voiding, presses the mass and voids again. Other than cystography, useful diagnostic means are urography and cystoscopy which may confirm the diagnosis and rule out associated urinary disease. The treatment consists of either simple reduction of the bladder hernia, if the hernia is small, or resection of the herniated portion of the bladder, if the hernia is large or is associated with other diseases (e.g. tumors). Bladder resection is then followed by closure of the bladder wall in two layers and by inguinal hernia repair.
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PMID:[Bladder hernia]. 852 5


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