[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].

INTRODUCTION: PEBAT (Progressive Encephalopathy, Early-Onset, with Brain Atrophy and Thin Corpus Callosum) is a rare disease characterized by a significant and progressive, neurological deficit. The disease has autosomal recessive etiology and is caused by bi-allelic variants in the gene TBCD (Tubulin-Specific Chaperone D). In 2017 the disease was diagnosed in two sisters from Jewish Cochin ethnicity (originating in Karela in south India) in Israel. Genetic testing for the girls revealed the homozygous TBCD variant c.1423G>A (p.Ala475Thr). This variant was reported simultaneously in another unrelated patient of Cochin origin.

The Clinical Presentation of Pediatric Mycoplasma pneumoniae Infections-A Single Center Cohort.

BACKGROUND: Mycoplasma pneumoniae (MP) is a major cause of community-acquired upper and lower respiratory infections in school-age children; however, there is increasing recognition that younger children are also affected. Clinical manifestations vary from asymptomatic, to severe complicated pneumonia sometimes with extrapulmonary manifestations. METHODS: We reviewed the medical records of all MP positive pediatric patients admitted to the Hadassah-Hebrew University Medical Center. MP positive case was defined if MP polymerase chain reaction was positive from an oropharyngeal swab sent from 2007 to 2017. RESULTS: During the study period, we identified 353 MP positive pediatric cases, of which 51.3% (181 of 353) were younger than 6 years old. Full clinical data were available for 332 of 353 (94%). The median age was 5.7 years (range, 3 weeks to 18 years). Disease presentation differed between younger and older children. Children older than 6 years were more likely to have chest radiograph confirmed pneumonia (66% vs. 52%; P = 0.009), while younger children were more likely to have other respiratory manifestations (37% vs. 25%; P = 0.017). The duration of hospitalization and pediatric intensive care unit admission rate, however, did not differ between age groups. The rate of extrapulmonary manifestations were also similar. CONCLUSIONS: MP-associated infection is a significant cause of hospitalization in the pediatric population including younger children (<6 years old). However, the clinical presentation in younger age is less typical than is thought. These findings should prompt clinicians to consider MP infections also in children younger than 6 admitted with fever even without pneumonia.

[CONTROLLING AN OUTBREAK OF RESPIRATORY SYNCYTIAL VIRUS (RSV AMONG NICU PATIENTS AND THE MEDICAL TEAM].

Respiratory Syncytial Virus (RSV is the most common cause of respiratory infections in infants, causing bronchiolitis and pneumonia. Premature infants have an increased risk for developing severe illness and even death. A monoclonal antibody vaccination named Palivizumab is available for preventing RSV infection. We describe an outbreak and control of RSV infections in one of our neonatal intensive care units, involving three patients and two medical team members.

[Acute urinary retention in children].

Acute urinary retention is defined as failure to urinate in spite of an adequate amount of urine in the bladder. Acute urinary retention in children is rare, and may cause pain and distress. Diagnosis and urgent treatment are essential. Identification and treatment of underlying medical conditions such as constipation, neurological impairment or adverse reactions to medications may prevent recurrence of retention. We describe six cases of children who were hospitalized with acute urinary retention and review the medical literature on the subject.

Urine flow is a novel hemodynamic monitoring tool for the detection of hypovolemia.

BACKGROUND: Noticeable changes in vital signs indicating hypovolemia occur only after 15% of the blood volume is lost. More sensitive variables (e.g., cardiac output, systolic pressure variation and its Δdown component) are invasive and difficult to obtain in the early phase of bleeding. Lately, a new technology for continuous optical measurements of minute-to-minute urine flow rates has become available. We performed a preliminary evaluation to determine whether urine flow can act as an early and sensitive warning of hypovolemia. METHODS: Eleven patients (ASA physical status I-II) undergoing posterior spine fusion surgery were studied prospectively. Study variables included heart rate, blood pressure (systolic and diastolic), systolic pressure variation and Δdown, minute urinary flow, hemoglobin, blood and urinary sodium, and creatinine in the blood and urine. Urine flow rate was measured using URINFO 2000™ (FlowSense Medical, Misgav, Israel). After recording baseline variables, 10 mL/kg of the patient's blood was shed and a second set of variables was recorded. Subsequently, hypovolemia was reversed by infusing colloid solution (hetastarch 6%) followed by recording a third set of variables. These 3 observations were then compared. RESULTS: An average of 614 ± 143 mL (mean ± SD) of blood was shed. During phlebotomy, the mean urine flow rate decreased from 5.7 ± 8 mL/min to 1.07 ± 2.5 mL/min. Systolic blood pressure and hemoglobin also decreased. Δdown increased. After rehydration, urine flow, blood pressure, and Δdown values returned to baseline. The hemoglobin concentration decreased whereas other variables did not change significantly. CONCLUSION: Urine flow rate is a dynamic variable that seems to be a reliable indicator of changes in blood volume. These results justify further investigation.