GRIN2A Variant in A 3-Year-Old-An Expanding Spectrum?

Glutamate, the major excitatory neurotransmitter, plays a ubiquitous role in most aspects of normal brain functioning. Its indispensable position is paradoxically doubled by a high excitotoxic potential following disruption of its dynamic equilibrium. Several lines of evidence have suggested the involvement of the glutamatergic N-methyl-D-aspartate receptor (NMDAR) in learning, memory formation, and human cognition. Furthermore, NMDARs play a pivotal role in various neuropsychiatric disorders, recently being identified as an important locus for disease-associated genomic variation. The GRIN2A gene encodes the NMDAR's GluN2A subunit. Genetic alterations of GRIN2A result in phenotypic pleiotropy, predisposing to a broad range of epilepsy syndromes, with an elusive and unpredictable evolution and response to treatment. The archetypal GRIN2A-related phenotype comprises the idiopathic focal epilepsies (IFEs), with a higher incidence of GRIN2A mutants among entities at the more severe end of the spectrum. We report the case of a patient heterozygous for GRIN2A, c.1081C>T, presenting with febrile convulsions and later superimposed atonic seizures, expressive language delay, and macrocephaly. As the number of reported GRIN2A variants is continuously increasing, the phenotypic boundaries gradually grow faint. Therefore, it is fundamental to maintain an acute critical awareness of the possible genetic etiology of different epilepsy syndromes. So far, therapeutic strategies rely on empirical observations relating genotypes to specific drugs, but the overall success of treatment remains unpredictable. Deciphering the functional consequences of individual GRIN2A variants could lead to the development of precision therapeutic approaches for patients carrying NMDAR mutations.

Association of mother's handwashing practices and pediatric diarrhea: evidence from a multi-country study on community oriented interventions.

INTRODUCTION: Improved hand hygiene in contexts with high levels of diarrheal diseases has shown to reduce diarrheal episodes in children under five years. A quasi-experimental multi-country study with matched comparisons was conducted in four rural districts/sub districts in Cambodia, Guatemala, Kenya and Zambia. METHODS: Community oriented interventions including health promotion for appropriate hand washing was implemented in the intervention sites, through community health workers (CHW) and social accountability mechanisms. Community councils were strengthened/established in all study sites. Using household surveys, information on mother's handwashing practices and diarrhea incidence of children 2 weeks preceding the study was obtained. RESULTS AND CONCLUSION: Access to safe drinking water was reportedly higher for communities in Guatemala and Zambia (> 80%), than those in Cambodia and Kenya (< 63%), with significantly higher levels in intervention sites for Guatemala and Kenya. Improved sanitation was low (< 10%), for Kenya and Zambia, compared to Cambodia and Guatemala (> 40%); intervention sites reporting significantly higher levels, except for Zambia. Hand washing index; hand washing before food preparation, after defecation, attending to a child after defecation, and before feeding children was significantly higher for intervention sites in Cambodia, Guatemala and Kenya (Cambodia, 2.4 vs 2.2, p < 0.001, Guatemala, 3.0 vs 2.5, p < 0.001, Kenya, 2.6 vs 2.3, p < 0.001). Factors significantly associated with lower odds of diarrhea were; mother's marital status, higher educational status, one or more handwashing practices, wealthier quintiles, older (> 24 m), and female children. The findings suggest that caretaker handwashing with soap or ash has a protective effect on prevalence of diarrhea in children.

Syndromic approach to detection of gonococcal and chlamydial infections among female sex workers in two Philippine cities.

BACKGROUND: In many developing countries, STD control efforts often involve registration and periodic examinations of female sex workers (FSW). Non-availability of sensitive and specific diagnostic tests frequently constrain this approach. METHODS: A model for detection of Chlamydia trachomatis or Neisseria gonorrhoeae in FSW on the basis of risk assessment and examination was developed from data gathered in Manila and evaluated in a second city (Cebu) in the Republic of the Philippines. RESULTS: Gonococcal or chlamydial cervical infection was found in 23.3% of FSW in Manila and 37.0% in Cebu. Unregistered and younger FSW had greatest risk of chlamydial infection and/or gonorrhoea in both cities. In Manila, where gynaecologists performed the pelvic examinations, signs of cervical mucopus or cervical motion, uterine or cervical motion tenderness in women under < 25 years old or unregistered had positive predictive value (PPV) of 0.60 and sensitivity of 42.1% for cervical infection. In Cebu, where women were not examined by gynaecologists, the same model had high PPV, but a sensitivity of only 12.3%. CONCLUSIONS: Experience and training of clinicians undoubtedly can influence the yield of examination in syndromic management of cervical infection. Nevertheless, inexpensive and diagnostic tests are needed for detection of cervical infection in this population.

High HIV prevalence, low condom use and gender differences in sexual behaviour among patients with STD-related complaints at a Nairobi primary health care clinic.

Of 22,274 patients > or = 12 years old attending a Nairobi primary health care (PHC) clinic, 1076 (4.8%) had STD-related complaints, of whom 980 underwent assessment of risk factors for human immunodeficiency virus (HIV) infection and infrequent condom use. Gonorrhoea, chancroid, syphilis seroactivity, trichomoniasis, or objective signs of STD were found in 78%, and HIV seropositivity in 15% of men and 19% of women. Most women were married, living with a spouse; while most men were single, or married, but living separated from a spouse. Among married men, last sex was with a female sex worker (FSW) or casual partner for 60% not living with a spouse and 26% living with a spouse (P<0.005). Two or more partners during the past year were reported by 82% of men and 25% of women (P <0.001), and 55% of men and 11% of women reported the last partner was high risk. HIV seropositivity among both genders was associated with numbers of partners, and among women, with being widowed or divorced. Only 3% reported use of a condom with the last partner. Among men whose last sex was with a FSW, 74% said the reason for not using a condom was not having one. Thus, infrequent condom use, low condom availability, and gender differences in behaviour necessitate modifying development policies that separate families; and better coordination between family planning, PHC, and AIDS/STD programmes, with improved supply, social marketing and community-based distribution of condoms in high-risk settings for STD/HIV prevention.

Comparison of STD prevalence and the behavioral correlates of STD among registered and unregistered female sex workers in Manila and Cebu City, Philippines.

Current STD control efforts are largely confined to female sex workers (FSWs) registered with the local Social Hygiene Clinics. This study was conducted to compare the prevalence of gonococcal and chlamydial infections and its behavioral correlates among registered FSWs in two major urban centers. FSWs in Manila and Cebu City consented to undergo an STD physical examination and standardized interview to measure socioeconomic markers and STD-related practices. The questionnaire was pretested in a series of four focus groups in Manila and subsequently administered in Tagalog and Cebuano by trained interviewers. Infection with N. gonorrhea was determined by culture and infection with C. trachomatis was defined by antigen detection. From July through September 1994 similar numbers of women were recruited in Manila (n = 311) and Cebu City (n = 300). However, thanks to the abilities of an interviewer who was previously a FSW, Cebu City was more successful at recruiting unregistered FSWs (50%) than was Manila (18%). The gonorrhea prevalence was 5 times greater among unregistered FSWs (70/185 or 37.8%) than registered FSWs (29/403 or 7.2%) (p 0.05). Prevalence of chlamydial infection was 2 times greater among unregistered FSWs (30.5%) than among registered ones (14.6%) (p 0.05). Unregistered FSWs reported fewer years working as a FSW, more partners in the prior week, and less current use of contraceptives (p 0.05). Rates of antibiotic use in the last week and douching in the last 24 hours were similar between the two groups. This study shows that unregistered FSWs are at a higher risk for acquiring and transmitting STDs, including HIV infection, than registered FSWs. There is an urgent need to implement interventions to reach this vulnerable group of women.

Designing prenatal care messages for low-income Mexican women.

Communication theories and research data were used to design cross-cultural health education messages. A University of California Los Angeles-Universidad Autonoma in Tijuana, Mexico, research team used the methods of ethnographic and survey research to study behaviors, attitudes, and knowledge concerning prenatal care of a sample of pregnant low-income women living in Tijuana. This audience provided information that served as a framework for a series of messages to increase awareness and change prenatal care behaviors. The message design process was guided by persuasion theories that included Petty and Caccioppo's elaboration likelihood model, McGuire's persuasion matrix, and Bandura's social learning theory. The results from the research showed that poor women in Tijuana tend to delay or not seek prenatal care. They were not aware of symptoms that could warn of pregnancy complications. Their responses also revealed pregnant women's culturally specific beliefs and behaviors regarding pregnancy. After examination of these and other results from the study, prenatal care messages about four topics were identified as the most relevant to communicate to this audience: health services use, the mother's weight gain, nutrition and anemia, and symptoms of high-risk complications during pregnancy. A poster, a calendar, a brochure, and two radio songs were produced and pretested in focus groups with low-income women in Tijuana. Each medium included one or more messages addressing informational, attitudinal, or behavioral needs, or all three, of the target population.