Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families.

OBJECTIVE: This study explored the social factors affecting prenatal decision making, the impact of genetic counseling on prenatal decision making, and how genetic counseling is perceived by Turkish women. METHOD: A standardized questionnaire was given to 231 patients, before and after genetic counseling, at Hacettepe University Ihsan Dogramaci Children's Hospital in 2007-2008. RESULTS: The level of education was an important factor both in prenatal decision making and in the patients' perception of genetic counseling. Decisions of pregnancy termination differed by geographic region of referral and history of healthy children but the differences were not statistically significant. The decisions were not influenced by poor obstetric history, number and sex of previous children, and disability of previous children. CONCLUSION: The level of education and the geographic region of referral in Turkey had an effect on the prenatal decisions and on the amount of prenatal genetic counseling received by the individuals.

Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome.

Fragile X syndrome (FXS) is the most common hereditary disorder of intellectual disability. Cognitive deficits involve executive function, attention, learning and memory. Advanced neuroimaging techniques are available, and (1)H magnetic resonance spectroscopy (MRS) can be used as a complementary method to MR imaging to understand disease processes in brain, by in vivo demonstration of brain metabolites. MRS was performed in 13 male patients with FXS full mutation, and 13 age- and sex-matched healthy controls. FXS diagnosis was based on clinical evaluation, followed by detection of FMR1 full mutation. Axial T2 TSE, sagittal T1 SE and coronal 3D MPRAGE images were obtained for both morphological imaging and voxel localization. Following evaluation of conventional images, multivoxel MRS (CSI) through supraventricular white matter and single voxel MRS (svs) with an intermediate echo time (TE:135 ms) from the cerebellar vermis were performed. Choline/Creatine (Cho/Cr), N-acetyl aspartate/Creatine (NAA/Cr), and Choline/N-acetyl aspartate (Cho/NAA) ratios were examined at right frontal (RF), left frontal (LF), right parietal (RP), left parietal (LP), and cerebellar vermian (C) white matter. Statistical analyses were done using t-test and Mann-Whitney U tests. A statistically significant difference was observed in RP Cho/NAA ratio (cell membrane marker/neuroaxonal marker), FXS patients having lower levels than controls (P = 0.016). The results should be evaluated cautiously in parallel to consequences in brain metabolism leading to alterations in neurotransmitter levels, osmoregulation, energy metabolism and oxidative stress response described in animal models. MRS may serve to define a metabolic signature and biomarkers associated with FXS.

The role of brain perfusion SPECT in Moyamoya disease.

Moyamoya disease (MMD) is a cerebrovascular disorder involving stenosis of brain vessels. Brain perfusion SPECT in MMD demonstrates impaired perfusion in ischemic areas. We present a 6-year-old boy with MMD. The patient had numbness on the right arm and simultaneous electroencephalography changes while studying arms up on the table. To differentiate seizure and ischemic symptoms, brain perfusion SPECT studies were obtained when the patient was asymptomatic (SPECT-A) and during the symptoms-EEG changes (SPECT-B). SPECT-A showed perfusion defect on the right frontal cortex, hypoperfusion on the right parieto-occipital region and slightly increased perfusion on the left parietal cortex. SPECT-B displayed significant hyperperfusion on the left parietal cortex; hypoperfusion on the right parietal, right temporal, right parieto-occipital and left frontal cortex. Additionally, brain perfusion SPECT of the child's younger brother diagnosed with MMD showed decreased regional cerebral perfusion. Physiopathological mechanisms of our patient's SPECT findings and indications of brain perfusion SPECT in MMD were also discussed.

El papel del SPECT cerebral de perfusion en la enfermedad de moyamoya / The role of brain perfusion SPECT in moyamoya disease

La enfermedad de moyamoya (EdM) es una alteración cerebrovascular que implica la estenosis de los vasos cerebrales. La SPECT de perfusión cerebral en la EdM demuestra alteración de la perfusión en las zonas isquémicas. Presentamos el caso de un niño de 6 años con EdM que presentaba adormecimiento en el brazo derecho y alteraciones en el EEG cuando estudiaba con los brazos sobre la mesa. Para diferenciar entre crisis epiléptica y síntomas isquémicos se efectuaron estudios cuando el paciente estaba asintomático (SPECT-A) y durante los síntomas con cambios en el EEG (SPECT-B). La SPECT-A mostró defecto de perfusión frontal derecho, hipoperfusión parieto-occipital derecha y leve incremento de la perfusión en la corteza parietal izquierda. La SPECT-B mostró hiperperfusión significativa en la corteza parietal izquierda e hipoperfusión en el parietal, temporal y región parieto-occipital derechos y corteza frontal izquierda. Además, la SPECT de perfusión cerebral de un hermano menor del niño diagnosticado de EdM mostró disminución de la perfusión cerebral regional. Se discuten los mecanismos fisiopatológicos de estos hallazgos y las indicaciones de la SPECT de perfusión cerebral en la EdM(AU)

Moyamoya disease (MMD) is a cerebrovascular disorder involving stenosis of brain vessels. Brain perfusion SPECT in MMD demonstrates impaired perfusion in ischemic areas. We present a 6-year-old boy with MMD. The patient had numbness on the right arm and simultaneous electroencephalography changes while studying arms up on the table. To differentiate seizure and ischemic symptoms, brain perfusion SPECT studies were obtained when the patient was asymptomatic (SPECT-A) and during the symptoms-EEG changes (SPECT-B). SPECT-A showed perfusion defect on the right frontal cortex, hypoperfusion on the right parieto-occipital region and slightly increased perfusion on the left parietal cortex. SPECT-B displayed significant hyperperfusion on the left parietal cortex; hypoperfusion on the right parietal, right temporal, right parieto-occipital and left frontal cortex. Additionally, brain perfusion SPECT of the child's younger brother diagnosed with MMD showed decreased regional cerebral perfusion. Physiopathological mechanisms of our patient's SPECT findings and indications of brain perfusion SPECT in MMD were also discussed(AU)

A multidisciplinary approach to the management of individuals with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Patterns of salivary gland uptake in I-131 MIBG scintigraphy

La gammagrafía con I-131 MIBG se utiliza de modo rutinario para el diagnóstico de tumores neuroendocrinos con alta especificidad. El radiofármaco se deposita mediante mecanismos de captación y se transpone activo hacia las vesículas presinápticas del almacenamiento. Los órganos con densa inervación simpática como las glándulas salivales, corazón, glándulas lacrimales, bazo y rarmente médula adrenal se visualizan normalmente con I-131 MIBG. La captación de las glándulas salivales asimétrica es importante en un paciente con sospecha de tumores neuroendocrinos. La ausencia de radioactividad puede resultar en denervación simpática o tumor. La ausencia de radioactividad bilateral es observada normalmente debido a las condiciones de almacenamiento de las drogas o radiofármacos. La exploración detallada de la región cervical es crucial para la localización de los tumores neuroendocrinos. Por lo tanto, debe tenerse en cuentalos falsos positivos

I-131 MIBG scintigraphy is routinely used in the diagnosis of neuroendocrine tumours with high specificity. The radiopharmaceutical is taken up via uptake mechanism and actively transported into storage vesicules. The organs with dense sympathetic innervation such as salivary glands, heart, lachrymal glands, spleen and rarely adrenal medulla are normally visualized with I-131 MIBG. Asymetrical salivary gland uptake is improtant in a patient with suspected neuroendocrine tumours. Absence of radioactivity may be a result of sympathic denervation or tumor. Bilateral radioactivity absence is observed usually due to drugs or radiopharmaceutical storage conditions. Detailed examination of cervical region is crutial for localisation of neuroendocrine tumours. Therefore, possible false positives should be kept in mind