Congenital bladder perforation and urinary ascites caused by posterior urethral valves: a case report.

Neonatal urinary ascites caused by bladder perforation is rare, with fewer than 20 cases reported in earlier literature. Congenital bladder perforation can be associated with bladder outlet obstruction such as posterior urethral valves, urethral atresia, presacral mass, and neurogenic dysfunction of the bladder. The bladder perforation in these cases is most commonly intraperitoneal, which leads to congenital urinary ascites. However, intrauterine perforation of the bladder in a newborn infant with posterior urethral valves is extremely rare, as is evident from the three cases in previous literature. The present case report describes an unusual case of congenital bladder perforation and urinary ascites caused by posterior urethral valves.

Clinical consequences of a human non-fluorescent Y chromosome (Ynf).

A new case of ambiguous genitalia and immature tissue in the left gonad is presented. Cytogenetic findings with various techniques demonstrated that the distal two-thirds of the long arm of the Y chromosome is deleted. Q-banding showed a non-fluorescent Y; three positive bands were however noted when the DA/DAPI technique was applied. After a review of the literature, it was concluded that the non-fluorescent Y chromosome (Ynf) when inherited from generation to generation is a heteromorphism in normal males. However, in our case, where the proband's Y is lacking the fluorescent segment, a simple deletion does not appear to adequately explain the DA/DAPI positive bands. Possibly, a deletion followed by a structural rearrangement of the non-fluorescent segment had occurred de novo. The highly Y-specific DNA sequences present in the fluorescent segment are absent in these patients. The abnormal development in these cases is due to the presence of the 45,X cell line. The gene responsible for spermatogenesis has been localized to the non-fluorescent region in the long arm of the Y chromosome. Furthermore, it is concluded that two types of non-fluorescent Y chromosomes can be found in the population; one is a normal inherent heteromorphic variant, while the other appears to be an abnormality, especially in cases with azoospermia. Such distinctions should clearly be established prior to genetic counseling for patients with so called Ynf or del (Yd).

A possible clinical implication of homozygous inversions of 9qh regions with Cornelia de Lange syndrome (CLS).

Several investigators have attempted to correlate chromosomal abnormalities with Cornelia de Lange Syndrome (CLS), but none of them have been conclusive. The homozygous inversion of 9qh found in the present case has not been found previously. It remains to be clarified whether the presence of this finding in CLS was simply a coincidence or whether homozygosity for such inversions may result in CLS.

Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.

An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat-eye syndrome including apparently low-set and malformed ears, preauricular tags, micrognathia, and imperforate anus. Although G-banding suggested that this extra material was chromosome 22, this was not confirmed by several other banding techniques. After examination of the parents' chromosomes, the nature and origin of this extra chromosome remains obscure. We conclude that patients previously diagnosed as having "partial trisomy 22" with incomplete cat-eye syndrome may have a different chromosome constitution when studied by various banding techniques.

Pharmacokinetics of cefoperazone in full-term and premature neonates.

The pharmacokinetics of cefoperazone were evaluated in 28 newborn infants who were being treated for sepsis. A dose of 50 mg/kg was administered intravenously on days 0 to 2 in all, with a second dose administered on days 5 to 7 in 14 infants. Cerebrospinal fluid penetration was also studied in seven neonates. The mean peak concentration of cefoperazone in the serum of premature infants less than 33 weeks of gestational age, 159 (standard deviation, +/- 22) micrograms/ml, was higher than concentrations in premature infants 33 to 36 weeks of age and full-term infants (110 +/- 41 and 109 +/- 29 micrograms/ml, respectively). The mean concentrations 24 h after dosage were similar in all three groups, 13 to 17 micrograms/ml. The mean serum half-lives were similar in the three subgroups and ranged from 7 to 9 h. After the dose at 5 to 7 days, mean blood levels in the subgroups at 0.5 h were 149, 112, and 112 micrograms/ml; 24-h levels ranged from 9 to 12 micrograms/ml. The mean serum half-lives ranged from 5 to 7 h. Cerebrospinal fluid levels in patients with meningitis ranged from 2.8 to 9.5 micrograms/ml and in patients without meningitis from 1 to 7 micrograms/ml. Peak blood levels were 15 to 1,000 times higher than the 90% minimal inhibitory concentration of common pathogens found in newborns. These observations support the potential efficacy of cefoperazone in treatment of infections, including meningitis, in newborn infants.

Relationship of thyroid hormone levels to the severity of the narcotic withdrawal syndrome.

Serum T3, T4 and thyroid stimulating hormone (TSH) were evaluated in 24 neonates of mothers taking methadone and compared with 16 normal controls using cord serum and serum taken on days 1, 2, 3, 4, 7, and 14. Patients were divided into treated (Rx; n = 14) and not treated (No Rx; n = 10) groups based on withdrawal scores and correlated to thyroid hormone levels. T4 levels were greater in the Rx group when compared to controls on days 2, 4 and 7 (p less than 0.01) and when compared to the No Rx group on days 3 and 7 (p less than 0.005). No Rx patients had higher T4 levels when compared to controls on day 4 (p less than 0.05). In general T3 levels paralleled T4 results. TSH levels were decreased in the Rx group compared to No Rx and controls on day 2 (p less than 0.01). Lipsitz scores correlated with T4 levels on days 3, 4, and 7 in methadone patients (p less than 0.05) but did not correlate with T3 or TSH. These findings suggest a correlation between the severity of withdrawal symptoms and T4 and T3 levels.

Urinary catecholamines, plasma renin activity and blood pressure in newborns: effects of narcotic withdrawal.

Blood pressure and plasma renin activity were studied in 13 infants of drug-dependent mothers (heroin and/or methadone) and 20 control newborns for a period of 21 days. Urinary excretion of epinephrine and norepinephrine were also measured at 24 and 48 h of age. The systolic blood pressure was found to be significantly elevated in newborns of drug-dependent mothers compared with controls (p less than 0.01), but diastolic blood pressure levels were similar. Plasma renin activity was significantly elevated (p less than 0.001) at 48-72 h and urinary epinephrine levels were significantly lower (p less than 0.05) at 24-48 h of age in the drug group, and norepinephrine levels were equivalent. Systolic hypertension and elevated plasma renin activity in these newborns of dependent mothers may be due to increased beta-adrenergic receptor sensitivity.

Double trisomy 48,XXX,+ 18 in a newborn.

We report the 6th case of double trisomy X and 18 ie, 48,XXX,+ 18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX, +18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.

Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.

A patient with duplication of a short segment of 3q (3q21 leads to 26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.

Effects of methadone on thyroid function in mother, fetus, and newborn.

The effects of maternal use of methadone during pregnancy on tests of thyroid function were studied in 14 women and their offspring. Twelve normal nonaddicted women and their infants served as a control group. Concentrations of thyrotropin (TSH), thyroxine (T4), and triiodothyronine (T3) were not significantly different in maternal and cord serum, and in infant serum at age 24 hours. There was no significant difference in infants' TSH concentrations at 2, 3, and 7 days of age. At 2 and 7 days, T3 levels were significantly higher in the methadone than in the control group (P = .01 and less than .01, respectively). At 3 days, differences were of borderline significance (P = .08). Increased T4 levels in the methadone group of infants were statistically significant at 2 days (P less than .01) and at 3 and 7 days (P = .05). The mechanisms responsible for the biochemical evidence of hyperthyroidism were not determined, but may have been related to altered autonomic function and/or increased metabolic activity which occurs during neonatal narcotic withdrawal.

Chromosomal abnormality in the newborns of hepatitis B surface antigen (HBsAg) carrier mothers.

The association of maternal hepatitis B surface antigen carriers (HBsAg) and chromosomal abnormalities in their newborns has been previously suggested. This is a report on two female infants with abnormalities of chromosome 18 and trisomy 3q syndrome who were born to HBsAg carriers. These cases indicate that a possible relationship exists between the HBsAg carrier state in the mother and chromosome abnormalities in her offspring. It is suggested that the parents of all newborns with a structural chromosomal abnormality be tested for HBsAg.

Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome.

In four previously reported patients with partial 3q trisomy, only a small portion of 3q was trisomic (3q21 leads to qter or 3q25 leads to qter). Clinical features in these cases have included the following: low-set ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short finger, clinodactyly, hypotonia, and low-set hairline. Cytogenetic studies of a premature, 1,680-g female infant with with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 leads qter), which resulted in partial trisomy for this segment, ie, 46,XX,-18, +t (3;18) (q12;p11). Although a larger portion of 3q was involved in this case, the clinical picture was similar to other cases of 3q duplication with or without 3p deletion.

Analysis of the medical records in a pediatric emergency room.

A prospective evaluation of Pediatric Emergency Room records permitted analysis of major errors and of factors contributing to them. All records from July 1973 to June 1975 were reviewed daily by a board certified pediatrician using a previously established protocol. Patients had been seen by pediatric house staff from 4 PM to 8 AM on weekdays and from 8 AM to 8 AM on weekends and 25,907 records were reviewed. Errors were detected in 9.5 percent of these. The most common was an incomplete set of vital signs which accounts for 68 percent of all errors. Failure to arrange for appropriate follow-up care occurred in 16 percent of cases. Other errors ranged from two to four percent and included inadequate use of laboratory, incomplete physical examination, inappropriate diagnosis or therapy. Major omissions in the history were uncommon (1.3 percent). The frequency of errors was significantly greater at the start of each academic year (July to October), and at the start of each month (P<0.001). The errors occurred significantly more often at the first year level than the second year level (P<0.01). This study suggests a means of improving record keeping and house staff education, ie, attending-level supervision should be emphasized at the start of each month and academic year. Daily reviews of errors with the house staff as well as modification of chart design may bring about more complete patient evaluation and detailed recording of findings, diagnosis, and disposition.

Cytogenetic polymorphism or Y/15 translocation in a black male with ambiguous genitalia.

A black male with ambiguous genitalia was found to have presumptive Y/15 translocation (46,XY,der(15) ? t(15;Y) (13;q12.2). The proband inherited this translocation from his father. All banding techniques were utilized to determine whether this was a polymorphism or a Y/15 translocation. No definite conclusion was reached but the results of QFQ, RFA, CBG, and GTG banding techniques are highly suggestive of Y/15 translocation.

Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.

A patient with ring chromosome 13 had some physical and stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.