Oded Gilad

Outcome of Infants Exposed to Olanzapine During Breastfeeding

OBJECTIVE This study evaluated the outcome of infants exposed to olanzapine during lactation. METHODS A prospective, controlled observational study design was used. Mothers who contacted Beilinson Teratology Information Service regarding use of olanzapine while breastfeeding were followed by phone interview. Data on lactation, neonatal symptoms, and outcome at the age of 1-2 years were obtained. Mother-infant groups were compared. Mothers breastfeeding while taking olanzapine (n = 22) were compared to two control groups of mothers who continued to take olanzapine but did not breastfeed (n = 15) and to breastfeeding mothers using a drug known to be safe during lactation (n = 51). RESULTS Follow-up was obtained for 37 of 70 women. Comparison of olanzapine-exposed breastfed versus control breastfed infants showed a similar duration of breastfeeding; however, early discontinuation of breastfeeding was more common in the olanzapine-exposed breastfed group (five of 22 vs. none of 51, p = 0.02). The rate of adverse outcomes in olanzapine-exposed breastfed infants did not differ from those of the control groups. Among the 30 newborns exposed in utero to olanzapine, no congenital birth defects were found. Neonatal symptoms were seen in six of 30 of olanzapine-exposed infants versus two of 51 of nonexposed infants (p < 0.05). A withdrawal syndrome was seen in three of 30 (10%) infants. CONCLUSIONS No increase in adverse long-term outcomes in olanzapine-exposed breastfed infants were found. Our data in conjunction with previous estimates of very low drug exposure support continuation of breastfeeding in women treated with olanzapine. However, until additional long-term studies are available, infants exposed to olanzapine through breastmilk should be followed up.

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.

The epsilon gamma delta beta (εγδβ)‐thalassemias are rare sporadic disorders caused by deletion of the β‐globin gene cluster. The main clinical feature is marked prenatal and neonatal anemia that resolves spontaneously within a few months. Reports originating mainly from Europe have so far identified 30 such deletions The aim of the present work was to describe a novel 1.78‐Mb deletion, the longest ever reported, and to detail the clinical features in 12 members of an extended Bedouin family.

Post-varicella thrombocytopenic purpura.

Aims:  The aim of the study was to characterize the clinical course of post‐varicella idiopathic thrombocytopenic purpura (ITP) and to asses the risk of acquiring ITP after varicella infection.

Levonorgestrel used for emergency contraception during lactation-A prospective observational cohort study on maternal and infant safety.

Objective: To identify possible effects of levonorgestrel used as an emergency contraceptive during breastfeeding on mothers and their infants. Study design: A prospective observational cohort study of all women who contacted the Teratology Information Service between January, 2005 and January, 2010. Breastfeeding women who used levonorgestrel as an emergency contraceptive (study group) were compared to breastfeeding women who used either ethynodiol diacetate or desogestrel (control group). Women were followed for 6–24 months. Main outcome measures were adverse maternal and infant effects and continuation of breastfeeding. Results: We followed 71 of 128 study group women and 72 of 100 control group women. Maternal adverse effects were mainly vaginal bleeding, which was less frequent in the study vs. control group (16 of 71 vs. 27 of 72, p = 0.068). Decreased lactation was uncommon and similar in both groups. Breastfeeding was reinitiated within less than 8 h in 75% of the levonorgestrel group women. Adverse infant effects were rare (0 of 72 infants vs. 2 of 72 infants, p = 0.5 in the study vs. control group). Conclusions: Our findings support the safety of using levonorgestrel as an emergency contraceptive during lactation without the need for withholding breastfeeding.

Characterization of Two Unique α-Globin Gene Cluster Deletions Causing α-Thalassemia in Israeli Arabs

Abstract The molecular basis of α-thalassemia (α-thal) is complex. The use of multiplex ligation-dependent probe amplification (MLPA) has offered the possibility of identifying more gene deletions causing α-thal. Our objective was to determine the molecular basis of two patients with Hb H (β4) disease. By using MLPA in combination with comparative genomic hybridization (CGH) we identified two novel α-globin gene cluster deletions: a 30 kb deletion (patient 1) we refer to as – –JAL and a large 216 kb deletion (patient 2) we refer to as – –LOD. Patient 1 was a compound heterozygote for – –JAL and –α3.7 (rightward deletion). Twelve family members of patient 1 carrying the – –JAL deletion were available for evaluation: five with – –JAL/–α3.7, four with – –JAL/αHph Iα and three with – –JAL/αα. Their clinical picture of compound heterozygosity was compatible with moderate Hb H disease. In patient 2 (– –LOD/–α3.7), no additional symptoms were present despite the heterozygous deletion of seven known genes, three non coding RNAs (ncRNAs), four unknown genes and two pseudo genes. Further analysis of more patients with α-thal deletions will have implications for genetic counseling and appropriate therapy.

Primary varicella infection presenting with headache and elevated intracranial pressure.

Primary varicella infection may be associated with neurologic complications, such as cerebritis and meningoencephalitis. Several cases of varicella infection with elevated intracranial pressure have been reported. We describe a 13-year-old immunocompetent girl who presented with a clinical picture of headaches and elevated intracranial pressure as the only manifestation of primary varicella zoster infection. The working diagnosis at first was pseudotumor cerebri based on complaints of headache of 2 weeks’ duration, in addition to vomiting and papilledema, without fever or skin eruption. On lumbar puncture, opening pressure was 420 mmH2O, but mild pleocytosis and mildly elevated protein level ruled out the diagnosis of pseudotumor cerebri. Our patient had no history of previous varicella infection, and she did not receive the varicella zoster vaccine. Serology tests, done on admission and repeated 2 months later, suggested primary varicella infection. The literature on varicella infection associated with pseudotumor cerebri or elevated intracranial pressure is reviewed.

Functional hyposplenism is an important and underdiagnosed immunodeficiency condition in children.

Few studies have focused on paediatric hyposplenism/asplenism, in which splenic phagocytic activity is diminished or absent in an anatomically present spleen. This study aimed to evaluate clinical findings, laboratory tests and prognosis of children with functional hyposplenism/asplenism.

Molecular diagnosis of α-thalassemia in a multiethnic population

α‐Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α‐globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α‐thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of genetic analyses of DNA samples referred to our laboratory for the molecular diagnosis of α‐thalassemia, along with a detailed clinical description.