Israel Medical Association Journal

Background: Transcobalamin II is a serum transport protein for vitamin B₁₂. Small variations in TC-II[1] affinity were recently linked to a high homocysteine level and increased frequency of neural tube defects. Complete absence of TC-II or total functional abnormality causes tissue vitamin B₁₂ deficiency resulting in a severe disease with megaloblastic anemia and immunologic and intestinal abnormalities in the first months of life. This condition was described in hereditary autosomal-recessive form. Low serum TC-II without any symptoms or clinical significance was noted in relatives of affected homozygotes.

Objectives: To study 23 members of a four-generation family with hereditary vitamin B₁₂ deficiency and neurologic disorders.

Methods: Thorough neurologic, hematologic and family studies were supplemented by transcobalamin studies in 20 family members.

Results: Partial TC-II deficiency was found in 19 subjects. Apo TC- II (free TC-II unbound to vitamin B₁₂) and total unsaturated B₁₂ binding capacity were low in all tested individuals but one, and holo TC-II (TC-II bound by vitamin B₁₂) was low in all family members. The presentation of the disease was chronic rather than acute. Early signs in children and young adults were dyslexia, decreased IQ, vertigo, plantar clonus and personality disorders. Interestingly, affected children and young adults had normal or slightly decreased serum vitamin B₁₂ levels but were not anemic. Low serum B₁₂ levels were measured in early adulthood. In mid-late adulthood megaloblastic anemia and subacute combined degeneration of the spinal cord were diagnosed. Treatment with B₁₂ injections resulted in a significant improvement. The pedigree is compatible with an autosomal-dominant transmission. This family study suggests a genetic heterogeneity of TC-II deficiency.

Conclusions: We report the first family with a hereditary transmitted condition of low serum TC-II (partial TC-II deficiency) associated with neurologic and mental manifestations in childhood. Partial TC-II deficiency may decrease the amount of stored cobalamin, resulting in increased susceptibility to impaired intestinal delivery of cobalamin and predisposing to clinically expressed megaloblastic anemia at a later age. Partial TC-II deficiency should be suspected in families with megaloblastic anemia and in individuals with neurologic and mental disturbances – despite normal serum vitamin B₁₂ levels. Low serum UBBC[2] and apo TC-II should confirm the diagnosis. Early vitamin B₁₂ therapy may prevent irreversible neurologic damage.

Background: Understanding discharge instructions is crucial to optimal healing but may be compromised in the hectic environment of the emergency department.

Objectives: To determine parents’ understanding of ED[1] discharge instructions and factors that may affect it.

Methods: A convenience sample of parents of children discharged home from the ED of an urban tertiary care pediatric facility (n=287) and a suburban level II general hospital (n=195) completed a 13-item questionnaire covering demographics, level of anxiety, and quality of physician’s explanation. Parents also described their child’s diagnosis and treatment instructions and indicated preferred auxiliary methods of delivery of information. Data were analyzed using the BMPD statistical package.

Results: Full understanding was found in 72% and 78% of the parents at the respective centers for the diagnosis, and in 82% and 87% for the treatment instructions (P  = NS between centers). There was no statistical correlation between level of understanding and parental age, gender, education, level of anxiety before or after the ED visit, or time of day. The most contributory factor to lack of understanding was staff use of medical terminology. Parents suggested further explanations by a special discharge nurse and written information as auxiliary methods.

Conclusions: Overall, parental understanding of ED discharge instructions is good. However, there remains a considerable number (about 20%) who fail to fully comprehend the diagnosis or treatment directives. This subset might benefit from the use of lay terminology by the staff, institution of a special discharge nurse, or use of diagnosis-specific information sheets.

Background: Puncture wounds in the feet of children present a clinical dilemma.

Objectives: To evaluate our approach, we reviewed the charts and all available images of 80 children admitted to our institution because of plantar punctures from 1988 to 1999.

Methods: The charts of 80 children were reviewed retrospectively.

Results: Three groups of patients were found: 59 with superficial cellulitis, 11 with retained foreign bodies, and 10 with osteomyelitis and/or septic arthritis. There was a significant presentation delay in patients from the second and third groups. Most common organisms were Staphylococcus aureus or Group A Streptococcus. Of the 80 children, 34 were treated surgically and 46 were treated with antibiotic therapy alone. All patients with osteomyelitis and septic arthritis were re-examined; at follow-up, all but one were asymptomatic apart from residual radiologic sequelae in four.

Conclusions: Patients with an established infection 24–36 hours after a plantar puncture should be admitted to hospital for parenteral antibiotic therapy. Delayed presentation is a significant marker for deep-seated infection. Further infection or relapse after initial improvement suggests the presence of osteomyelitis or a retained foreign body. A bone scan is advisable in all patients with suspected osteomyelitis: a positive bone scan necessitates aggressive early debridement combined with appropriate antibiotics; while negative bone scan, X-ray and exploration suggest that the infection is due to a foreign body, which can be detected by computed tomography.
 

Birth helpers touch the parturient woman in many ways. They make physical contact to diagnose difficulties and manipulate safe delivery.

They may also touch the woman in non-physical ways, with special words, as they help a woman to give birth. Some hope also for a divine touch, as Jewish tradition teaches that God is a partner in the birth process.

This paper takes a historical look at the different forms of touch used by birth attendants to ease the safe arrival of a healthy infant.

We hope that this short retrospective will encourage today's birth helpers, especially doctors and midwives, to notice how they themselves touch birthing women. We hope to promote awareness of the verbal and non-verbal language of touch and to encourage the use of the art of touch among medical staff who are now more skilled than ever before in applying scientific touch to patients.
 

Background: Chronic childhood autoimmune hemolytic anemia is an uncommon disorder that is associated with significant morbidity. Treatment with high dose steroids, splenectomy and frequent blood transfusions results in a myriad of complications including growth failure, bone demineralization, Cushing’s syndrome, immunosuppression, and transfusional hemosiderosis.

Objectives: To investigate the efficacy of the monoclonal anti-CD20 antibody, rituximab, in treating children with AIHA[1].

Methods: Four children with chronic AIHA, including two with prior splenectomy, who were dependent on high dose steroids and refractory to other immunosuppressive regimens were treated with four to six weekly doses of rituximab at a dose of 375 mg/m².

Results: All four patients became transfusion-independent and were taken off prednisone completely. Adverse effects included infusion-related reactions that were mild, and infectious complications of Pneumocystis carinii pneumonia and varicella pneumonia.

Conclusions: Treatment with rituximab appears promising for refractory AIHA; it may obviate the need for prednisone and may result in sustained disease remissions in some patients.

The addition of methotrexate to treatment protocols in children with acute lymphoblastic leukemia has been found beneficial in preventing central nervous system relapse. However, MTX[1] itself may be associated with neurologic morbidities, the most significant of which is leukoencephalopathy. The present study describes the clinical spectrum of leukoencephalopathy, which ranges from a subclinical disease manifested only radiologically to a progressive, devastating encephalopathy. The interaction of MTX with other components of the treatment protocol is discussed, as is the effect of leucovorin. A summary is presented of the metabolic pathways that may be involved in the development of MTX toxicity. Researchers are still seeking a biochemical marker to aid in the determination of the amount of MTX that may be safely administered.

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