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Biomedical subjects

A H Tilton

Publications and source records attributed to A H Tilton.

11 recordsLinked to original sources
PubMed2001

Provisionally unique autosomal recessive syndrome due to significant consanguinity.

We report a patient with a syndrome of MR/MCA who was the product of a highly consanguineous family. The patient was the result of a union between a man and his daughter. The daughter was in turn the product of a mating between this same man and his mother. Major findings include: severe psychomotor and mental retardation, microcephaly with cerebral dysgenesis and cerebellar hypoplasia, early hypotonia and late hypertonia, short stature, early swallowing incoordination with aspiration pneumonias, distinctive face with striking hypertelorism, hypospadias, cryptorchidism, overlapping fingers, and rocker-bottom feet. Chromosome and metabolic studies were normal. The severity and uniqueness of his phenotype suggests a new, probably private, autosomal recessive disorder due to homozygosity for one or more loci.

Abnormalities, Multiple↗
PubMed2001

Intrathecal baclofen therapy for spastic hypertonia.

Intrathecal baclofen is perhaps the most effective treatment for significant spasticity regardless of the origin. For appropriately selected patients, it can provide qualitative and quantitative improvements in quality of life. This article discusses the practical aspects and patient selection, trial, implant, and ongoing management of patients with intrathecal baclofen pump therapy.

Baclofen↗
PubMed2000

Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome.

We report a 12-year-old girl with features of the syndrome of microcephaly, mesobrachydactyly, and tracheoesophageal fistula, who also developed distinctive features of Rett syndrome including regression of milestones with repetitive actions, autistic-like behavior, stereotypic hand movements, and seizures. This unique combination of clinical manifestations appears to constitute a "new syndrome." We speculate that this association may represent a contiguous gene syndrome.

Adolescent↗
PubMed1999

New-onset headache in an adolescent with MASS syndrome.

A 15-year-old girl with the "MASS" phenotype (meeting several of the minor criteria for Marfan syndrome) presents with a new onset low-pressure postural headache. Clinical features and magnetic resonance imaging suggested intracranial hypotension, which was confirmed with lumbar puncture. The pathophysiology and treatment of spontaneous intracranial hypotension are discussed.

Adolescent↗
PubMed1998

Nutrition and swallowing in pediatric neuromuscular patients.

The management of the patient with neuromuscular disease is complex. Every child should be seen as a distinct individual and therefore merits patient-specific assessment and intervention. This article reviews nutritional management using spinal muscular atrophy and Duchenne's muscular dystrophy as representative models. The history of nutritional intake, nutritional needs, and underlying medical problems with physical examination, anthropometric, body composition, and biochemical markers are all important parts of the assessment and should be done at regular intervals. Intervention may include calorie restriction or calorie supplementation. Treatment strategies that follow diagnosis of dysphagia include positioning, increased sensory input, or direct maneuvers, such as volume changes or thickening liquid. Percutaneous endoscopic gastrostomy can be safely placed in almost all situations with minimal risk. Patients benefit most from a multidisciplinary and systematic management program.

Adolescent↗
PubMed1997

Longitudinal neurological follow-up of a group of HIV-seropositive and HIV-seronegative hemophiliacs: results from the hemophilia growth and development study.

BACKGROUND: Boys and young men with hemophilia treated with factor infusions before 1985 had a substantial risk of acquiring the human immunodeficiency virus (HIV) and the acquired immunodeficiency syndrome. This study was designed to assess the effects of HIV and hemophilia per se on neurological function in a large cohort of subjects with hemophilia, and to investigate the relationships between neurological disease and death during follow-up. METHODS: Three hundred thirty-three boys and young men (207 HIV seropositive and 126 HIV seronegative) were evaluated longitudinally in a multicenter, multidisciplinary study. Neurological history and examination were conducted at baseline and annually for 4 years. The relationship between neurological variables, HIV serostatus, CD4+ cell counts, and vital status at the conclusion of the study was examined using logistic regression models. RESULTS: The risks of nonhemophilia-associated muscle atrophy, behavior change, and gait disturbance increased with time in immune compromised HIV-seropositive subjects compared with HIV seronegative or immunologically stable HIV-seropositive subjects. The risk of behavior change in immune compromised HIV-seropositive hemophiliacs, for example, rose to 60% by year 4 versus 10% to 17% for the other study groups. Forty-five subjects (13.5%), all of whom were HIV seropositive, died by year 4. Subjects who died had had increased risks of hyperreflexia, nonhemophilia-associated muscle atrophy, and behavior change. CONCLUSIONS: These results indicate that immune compromised, HIV-seropositive hemophiliacs have high rates of neurological abnormalities over time and that neurological abnormalities were common among subjects who later died. By contrast, immunologically stable HIV-seropositive subjects did not differ from the HIV-seronegative participants. Hemophilia per se was associated with progressive abnormalities of gait, coordination, and motor function.

Adolescent↗
PubMed1993

Ventilator-assisted youth: appraisal and nursing care.

An interdisciplinary review of 16 ventilator-assisted, cervical-cord injured youth, aged 3-19 years, was completed to explore long-term outcomes and develop recommendations for care. Ten youths were younger than 12 years; 6 were adolescents. The mean initial hospital length of stay was 192 days. Discharged youths were followed for 1-73 months after hospitalization. Nursing implications were developed using a systems approach with North American Nursing Diagnosis Association (NANDA) approved diagnoses. Nursing case management was used to coordinate discharge planning and continuity of care. At the time of data collection 13 youths had been successfully reintegrated to home, school and community, the least restrictive environments for all.

Adolescent↗
PubMed1989

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

We investigated fatty alcohol metabolism in eight patients with Sjögren-Larsson syndrome, and in nine obligate heterozygotes. Fatty alcohol: nicotinamide-adenine dinucleotide oxidoreductase (FAO) activity was deficient in cultured skin fibroblasts (mean 18% of normal, n = 8) and peripheral blood leukocytes (mean 22% of normal, n = 3) from patients with Sjögren-Larsson syndrome. The palmitoyl coenzyme A-inhibitable component of FAO activity was decreased to 10% and 15% of normal in fibroblasts and leukocytes, respectively, of patients with Sjögren-Larsson syndrome. Most affected patients accumulated long-chain fatty alcohol in plasma, with a greater relative accumulation of octadecanol (mean threefold greater than normal) than hexadecanol (mean twofold greater than normal). Erythrocyte lipid alkyl ether linkages derived from hexadecanol were slightly increased in three of four patients. Fibroblasts and leukocytes from heterozygotes with Sjögren-Larsson syndrome showed mean FAO activities that were intermediate between those seen in homozygotes and in normal control subjects. The heterozygotes had normal fatty alcohol concentrations in plasma. These studies demonstrate FAO deficiency in patients with Sjögren-Larsson syndrome, and suggest that accumulation of fatty alcohol or its metabolic products may be important in the pathogenesis of this disorder.

Adolescent↗
PubMedDate not supplied

Reversible myopathy due to labetalol.

A severe, generalized myopathy developed in 2 children treated with labetalol. An 11-year-old girl and a 14-year-old boy demonstrated proximal weakness and markedly elevated creatine kinase levels during labetalol therapy. Clinical improvement began immediately when labetalol administration was halted; muscle strength was normal within 2 months. Muscle biopsies were consistent with rhabdomyolysis.

Acute Kidney Injury↗