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Biomedical subjects

J E Haas

Publications and source records attributed to J E Haas.

At least 19 recordsLinked to original sources
PubMed1999

Altered cardiac histology following apical right ventricular pacing in patients with congenital atrioventricular block.

Previous studies have demonstrated that right ventricular apical pacing inherently alters ventricular contraction, regional blood flow, wall stress, and predisposes to diminished function. However, histological consequences of chronic apical pacing potentially contributing to the observed ventricular dysfunction remain conjectural. Previous canine studies have demonstrated histopathological cellular abnormalities with apically initiated ventricular pacing that may result in the observed diminished ventricular function. To determine if comparable adverse changes also occur in the clinical setting, 16 endomyocardial biopsies were obtained from 14 age-matched patients with congenital complete atrioventricular block (CCAVB) and otherwise normal anatomy, divided into two groups: eight biopsies (median patient age 15.5 years) from patients prior to pacemaker implant and another eight biopsies (median patient age 16 years) from patients following 3-12 years (median 5.5) of chronic ventricular pacing. In one patient, biopsy samples were obtained before and after pacing. Results demonstrated a significant (P<0.05) increase in histopathological alterations among the patient biopsy samples following pacing, consisting of myofiber size variation, fibrosis, fat deposition, sclerosis, and mitochondrial morphological changes. These findings indicate that chronic apical right heart ventricular pacing may adversely alter myocellular growth, especially among the young, on the cellular and subcellular level, potentially contributing to the diminished function observed clinically.

Adolescent↗
PubMed1998

Constitutional balanced translocations in alveolar rhabdomyosarcoma.

Chromosomal analysis of tumor tissue from two children with alveolar rhabdomyosarcoma revealed t(1;5)(q32;q31) and t(1;22)(q21;q11.2) in all metaphases examined, respectively. Peripheral blood lymphocytes carried the same cytogenetic abnormality as that of the tumor cells in both patients. Parental lymphocytes were karyotypically normal in the patient with t(1;22), indicating a de novo constitutional translocation, but t(1;5) was paternally inherited in the other patient. The presence of constitutional translocations in these two children might have contributed to the development of alveolar rhabdomyosarcoma.

Child↗
PubMed1998

Arteritis and fatal subarachnoid hemorrhage complicating occult Candida meningitis: unusual presentation in pediatric acquired immunodeficiency syndrome.

We report the case of an 11-month-old child with acquired immunodeficiency syndrome, who despite treatment for systemic candidiasis developed undetected Candida meningitis. This uncommon manifestation of candidiasis was accompanied by basilar granulomatous inflammation and fibrosis of meninges with arteritis, vascular invasion by fungi, and terminal subarachold hemorrhage. To our knowledge, this constellation of findings has not been reported previously in pediatric acquired immunodeficiency syndrome.

AIDS-Related Opportunistic Infections↗
PubMed1996

Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children.

The authors describe clinical and MRI features of a girl and two boys, aged 9, 17 and 19 years, respectively, with Marinesco-Sjögren syndrome. The clinical findings included the major features of the syndrome, including growth deficiency, ataxia, cataracts, hypogonadism (in two) and seizures (in two). Truncal hypotonia (in three), microcephaly (in two) and leg spasticity (in two) were also present. MRI showed a very small cerebellar vermis in all three patients, various supratentorial abnormalities, an apparently small anterior pituitary gland in two and the absence of a posterior pituitary gland in all three. The MRI features are similar to the few reported pathologic findings for persons with Marinesco-Sjögren syndrome. MRI may be helpful in the early diagnosis of the disorder.

Adolescent↗
PubMed1996

Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children.

The authors describe clinical and MRI features of a girl and two boys, aged 9, 17 and 19 years, respectively, with Marinesco-Sjögren syndrome. The clinical findings included the major features of the syndrome, including growth deficiency, ataxia, cataracts, hypogonadism (in two) and seizures (in two). Truncal hypotonia (in three), microcephaly (in two) and leg spasticity (in two) were also present. MRI showed a very small cerebellar vermis in all three patients, various supratentorial abnormalities, an apparently small anterior pituitary gland in two and the absence of a posterior pituitary gland in all three. The MRI features are similar to the few reported pathologic findings for persons with Marinesco-Sjögren syndrome. MRI may be helpful in the early diagnosis of the disorder.

Adolescent↗
PubMed1996

Biliary atresia, cytomegalovirus, and age at referral.

OBJECTIVE: To determine the frequency with which patients with extrahepatic biliary atresia (EHBA) are infected with cytomegalovirus (CMV) and to ascertain the age at referral to a specialty center for surgical correction of EHBA. METHODS: The charts of all patients discharged from the Children's Hospital and Medical Center between July 1, 1989 and December 31, 1993 with a new diagnosis of EHBA were reviewed to determine the frequency with which EHBA was accompanied by CMV infection. Data analyzed included age at referral and sex of patients, histopathologic evidence of CMV infection and size of bile ducts in the resected liver, and serologic (IgM) or culture diagnosis of CMV infection. RESULTS: Twenty-three patients with EHBA were evaluated at Children's Hospital and Medical Center in the study period. Twenty-one of the patients with EHBA were appropriately evaluated for infection with CMV and infection was documented in 5 (24%) patients. The median age of referral for all patients was 61 days (range 10 to 124 days). Infected patients were referred later (82.4 +/- 28.7 days) than noninfected patients (48.8 +/- 21.8 days) (P = .01) and were more likely to be girls, bu the medians of the diameters of the bile ducts in the resected porta hepatis were similar. Viral inclusions were not identified in any of the liver specimens. CONCLUSIONS: CMV infection is present in an unexpectedly large proportion of patients with EHBA at the time of referral. The establishment of CMV infection in infants with cholestasis should not deter the search for EHBA. Physicians should strive to reduce the age of referral of patients with EHBA to pediatric surgical centers by evaluating infants who remained jaundiced at 4 weeks of age.

Age Distribution↗
PubMed1994

Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.

Congenital alveolar proteinosis (CAP) is an often fatal cause of respiratory failure in term newborn infants, which has been associated with a genetic deficiency of surfactant protein B (SP-B) as a result of a frameshift mutation (121ins2) in a family with three affected siblings. In the index cases the deficiency of SP-B was associated with qualitative and quantitative abnormalities of the surfactant proteins A and C. Immunostaining for lung surfactant proteins and a search for the 121ins2 mutation by restriction enzyme analysis of DNA extracted from paraffin-embedded lung tissue was performed for 7 additional affected infants from 6 families, bringing to 10 the total number of patients with CAP who have been studied. In six infants, the surfactant protein immunostaining pattern was similar to that of the index cases. Of these, three patients were homozygous for the 121ins2 mutation; one was a compound heterozygote with the 121ins2 in one allele and a different mutation in the other; and three patients lacked the mutation in both alleles. One infant had an abundance of SP-B, suggesting phenotypic heterogeneity in CAP. Lung ultrastructural abnormalities, such as a reduced number of lamellar bodies, absent tubular myelin, and basal secretion of surfactant lipids and proteins, suggest a significant derangement of surfactant metabolism. The phenotypic heterogeneity in infants with CAP raises the possibility that variable degrees of SP-B deficiency may be more common than previously suspected.

Female↗
PubMed1993

Treatment of pulmonary metastases of initial stage I hepatoblastoma in childhood. Report from the Childrens Cancer Group.

BACKGROUND: Hepatoblastoma is a difficult tumor to treat if not completely resected. Historically, the outlook has been dismal in children in whom recurrent disease has developed. To determine better treatments for recurrent hepatoblastoma, the experience of a recent Childrens Cancer Group study was reviewed. METHODS: Data were reviewed for all children with localized (Stage I) hepatoblastoma enrolled in the Childrens Cancer Group protocol CCG-881. Particular attention was paid to children with recurrent disease that included the lungs. Initial pathology slides, retreatments offered these patients, and patient survival were reviewed. RESULTS: In an initial group of 33 children with Stage I hepatoblastoma, there were 10 in whom recurrent disease developed. Six of these had pulmonary metastasis develop with or without other sites of recurrence. One of these six children had a very good partial response to retreatment with combination chemotherapy, but, overall, the most effective treatment modality was surgical resection of the pulmonary disease. Three children (of a total of 10 patients who had a recurrence at any site and 6 who had a recurrence that included the lung) are long-term disease-free survivors 64-104+ months after their most recent recurrence. CONCLUSIONS: Extended disease-free survival is possible for children with recurrent hepatoblastoma if the recurrence is isolated to the lung and an aggressive surgical approach with intent to cure is used.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1993

Relationship between epidemiologic risk factors and clinicopathologic findings in the sudden infant death syndrome.

The risk of sudden infant death syndrome (SIDS) is said to be enhanced by factors such as prematurity, low birth weight, and perinatal distress. The significance of risk factors for SIDS research was questioned because the majority of SIDS victims seem to lack them. Therefore, postmortem records of 1144 infants who died suddenly and unexpectedly in King County, Washington, over a 25-year period were studied. Deaths were classified as "explained" if a cause was apparent, "classic" SIDS if the history and autopsy were unrevealing or, where the diagnosis of SIDS was doubtful, as "probable" or "possible" SIDS. The infants' birth certificates were compared with those of 3647 infants born during a similar period. Seventy-nine deaths (7%) were explained. The 1065 previously certified as SIDS were reclassified classic SIDS (82%), probable SIDS (13%), and possible SIDS (5%). Low birth weight, small size for gestational age, prematurity, and low 5-minute Apgar scores each form a "continuum"; the possible-SIDS group had the highest proportion of such infants, followed by the probable- and classic-SIDS groups, which exhibit extensive overlap with the control population. A 5-minute Apgar score of less than 7 and delayed postnatal growth rate are not risk factors for classic SIDS. Risk factors are more prevalent in SIDS infants where the diagnosis may be doubtful. The great majority of SIDS victims possess fewer risk factors. To avoid the bias of confounding variables, SIDS research should focus on as "pure" a SIDS population as is possible.

Adult↗
PubMed1993

Eosinophilic fasciitis in children frequently progresses to scleroderma-like cutaneous fibrosis.

We evaluated longterm outcome in 21 pediatric patients with biopsy proven eosinophilic fasciitis (EF), 4 followed in our rheumatology clinic and 17 reported in the literature. Two-thirds of these patients developed residual cutaneous fibrosis, while one-third enjoyed complete resolution of disease. Children under age 7 years were twice as likely as those over age 7 years to experience disease progression to cutaneous fibrosis [relative risk = 2.0 (95% confidence intervals 1.2, 3.4)]. Fourteen of 17 patients with extensive disease at diagnosis (involvement of 3-4 extremities +/- trunk) progressed to cutaneous fibrosis whereas all 4 patients with minimal disease (involvement of 1-2 extremities) at onset resolved completely. We detected no association between progression to cutaneous fibrosis and sex of patient, duration of symptoms prior to therapy, type of therapy, history of prior physical stress, or laboratory variables at diagnosis.

Adolescent↗
PubMed1991

Extending the Pallister-Hall syndrome to include other central nervous system malformations.

Hall-Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall-Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall-Pallister syndrome.

Abnormalities, Multiple↗
PubMed1991

Effective treatment of unresectable or metastatic hepatoblastoma with cisplatin and continuous infusion doxorubicin chemotherapy: a report from the Childrens Cancer Study Group.

The Childrens Cancer Study Group (CCSG) undertook a study (CCG-823F) to test the feasibility of administering continuous infusion doxorubicin (CI DOX) and cisplatin (CDDP) in patients with unresectable or incompletely resected hepatoblastoma (HB) or hepatocellular carcinoma (HCC). Chemotherapy consisted of CI DOX 20 mg/m2/d for days 1 to 4 and CDDP 100 mg/m2 on day 1 followed by a 21-day rest period. Second-look surgery was performed after the administration of four chemotherapy courses. Forty-seven (47) assessable patients were entered on study, 33 with HB and 14 with HCC; of these, 34 (26 HB and eight HCC) completed the initial four courses of chemotherapy. Of the 26 HB patients, 25 were evaluated as responding to chemotherapy before the scheduled second-look procedure and were considered surgically resectable at that time. Surgery was performed on 22 patients; three patients refused the second-look surgery. Nine patients had no evidence of residual malignant disease, seven underwent surgical resection of remaining tumor, four were left with microscopic residual disease, one had a partial resection with gross tumor left behind, and one remained unresectable. Nine HCC patients completed four chemotherapy courses. Eight patients achieved a partial remission and second-look surgery was attempted on seven. Only two had all malignant disease removed at the second procedure. Data from 225 courses of chemotherapy were evaluated for toxicity. Neutropenia (absolute granulocyte count less than 500/mL) was observed in 68 courses, and five of these episodes were associated with sepsis. Severe mucositis was documented in 21 courses, and hypomagnesemia (magnesium less than 1.2 mg) was noted in 30 patients. Two patients developed decreased left ventricular shortening fraction, which resolved when chemotherapy was discontinued. In summary, CI DOX plus CDDP is a well-tolerated and effective regimen in inducing surgical resectability in HB patients who are unresectable at diagnosis and significantly improves survival for this group of patients to 66.6%.

Adolescent↗
PubMed1989

Histopathology and prognosis in childhood hepatoblastoma and hepatocarcinoma.

To determine the relationship between outcome and histologic type, the authors examined data from 168 cases of hepatoblastoma (HB) and 28 cases of hepatocarcinoma (HC) accrued from children over a 14-year period. After adjustment for stage of disease, there was no significant difference in median survival between HB and HC. Mitotic activity was associated with poor prognosis. Necrosis or vascular invasion did not influence prognosis. In 55 cases of completely resected HB, pure fetal histologic type (PFH) was associated with improved survival when compared with all other histologic patterns of HB (92% versus 57% 24 months' survival; P = 0.02). A prognostic effect of PFH was not demonstrable in incompletely resected HB, but the absence of mitoses and the presence of differentiated mesenchymal elements improved survival. The fibrolamellar pattern of HC demonstrated survival similar to that of the typical pattern of HC. The authors conclude that features consistent with differentiation in HB convey improved prognosis for survival. These observations may be important in designing future therapy for children with hepatic tumors.

Carcinoma, Hepatocellular↗
PubMed1989

A case-control study of risk factors for hepatoblastoma. A report from the Childrens Cancer Study Group.

Parents of 75 children with hepatoblastoma, registered with the Childrens Cancer Study Group, and 75 age-matched controls, who had been identified through random digit dialing were interviewed. No evidence was found to support the primary study hypotheses relating to hepatitis infection, maternal estrogen exposure, alcohol consumption, smoking, or potential sources of nitrosamines. Case mothers were more likely to report occupational exposure to metals (odds ratio [OR] = 8.0, P = 0.01), petroleum products (OR = 3.7, P = 0.03), and paints or pigments (OR = 3.7, P = 0.05). Metal exposures were commonly to welding or soldering fumes, and most occurred daily, before and during the index pregnancy. Petroleum product exposures were predominantly to lubricating oils or protective greases. The only significant paternal exposure was to metals (OR = 3.0, P = 0.01) and the risk with exposure to petroleum products was marginally significant (OR = 1.9, P = 0.06). These findings provide further evidence that occupational exposures may increase the risk of cancer in offspring.

Adult↗
PubMed1989

Megalencephaly in sudden infant death syndrome.

The fresh brain weights of 79 infants with sudden infant death syndrome (SIDS) were tabulated and compared with expected "normal" brain weights. The series included 47 males and 32 females. Their ages ranged from 8 days to 16 months with a median of 2.5 months. The weights of all these brains were above the 50th percentile for age, and 64 of 79 brains (81%) were above the 95th percentile, including 15 (19%) at or above the 99.9th percentile. The ratio of the brain stem plus cerebellum weight to the whole brain weight of 93 formalin-fixed brains from victims of SIDS showed that the cerebrum was disproportionately heavier in most cases. No gross or microscopic evidence of cerebral edema was noted to account for the heavier weight. The significance of these findings is debatable. The increase in brain weight was less obvious in infants younger than 1 month of age but accelerated after that age. The brain weights of infants with SIDS may represent the really "normal" weights, since these patients were not known to be ill prior to death. If the brain weights of SIDS infants are really heavier than "normal," the possibility must be considered that disproportionately rapid growth of the brain during early infancy may be detrimental to the neural control of the cardiorespiratory system.

Brain↗
PubMed1989

Fatal infantile muscle phosphorylase deficiency.

A premature female infant born of a consanguineous union exhibited joint contractures and signs and symptoms of perinatal asphyxia. A muscle biopsy examined by light microscopic, histochemical, and electron microscopic techniques exhibited changes of muscle phosphorylase deficiency and glycogenosis, identical to those of McArdle's disease. Postmortem ultrastructural examination of liver and heart did not reveal lysosomal storage. This case and one previously reported example of fatal infantile phosphorylase deficiency suggest that the clinical spectrum of McArdle's disease may be broader than previously recognized.

Consanguinity↗