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1.
Rehabilitación (Madr., Ed. impr.) ; 57(4): [100784], Oct-Dic, 2023. tab, graf
Article in English | IBECS | ID: ibc-228348

ABSTRACT

Objective: To investigate relationships between amount of use of the more affected upper extremity and functional motor and communication performance classification systems. Material and methods: The study comprised 95 children with congenital hemiplegic cerebral palsy (CP) aged 6–15 years (52 males, 43 females; mean age 9.53, SD 3.1) and their parents/caregivers. The amount of use of the more affected upper extremity was assessed using Pediatric Motor Activity Log-Revised-How Often subscale (PMAL-R HO). Functional levels of the enrolled children were defined by the parents/caregivers using Manual Ability Classification System (MACS), Gross Motor Function Classification System-Expanded and Revised (GMFCS-E&R), and Communication Function Classification System (CFCS). Results: A strong and negative correlation was found between PMAL-R HO subscale score and MACS (r=−0.819), suggesting that children with lower MACS levels are more likely to use their more affected upper extremity spontaneously. Additionally, negative and moderate associations between PMAL-R HO subscale score and GMFCS and CFCS were revealed (r1=−0.549 and r2=−0.567). Conclusion: The amount of use of the more affected upper extremity is more sensitive to MACS than GMFCS-E&R and CFCS. Children with a given MACS level had a wide range of PMAL-R HO subscale score. In addition to MACS, a score on the PMAL-R HO subscale related to the more affected upper extremity should be included as an inclusion criterion in clinical trials to avoid misleading effects of intervention approaches aimed at improving the amount of use of the more affected upper extremity in children with congenital hemiplegic CP.(AU)


Objectivo: Investigar las relaciones entre la cantidad de uso de la extremidad superior más afectada y los sistemas de clasificación del rendimiento motor funcional y de la comunicación. Material y métodos: El estudio incluyó a 95 niños con parálisis cerebral (PC) hemipléjica congénita de 6 a 15 años de edad (52 varones, 43 mujeres; edad media 9,53, DE 3,1) y a sus padres/cuidadores. La cantidad de uso de la extremidad superior más afectada se evaluó utilizando la subescala Pediatric Motor Activity Log-Revised-How Often (PMAL-R HO). Los niveles funcionales de los niños incluidos fueron definidos por los padres/cuidadores utilizando Manual Ability Classification System (MACS), Gross Motor Function Classification System-Expanded and Revised (GMFCS-E&R) y Communication Function Classification System (CFCS). Resultados: Se encontró una correlación fuerte y negativa entre la puntuación de la subescala PMAL-R HO y MACS (r=-0,819), lo cual sugiere que los niños con menores niveles de MACS tienen mayor probabilidad de utilizar su extremidad superior más afectada de manera espontánea. Además, se revelaron asociaciones negativas y moderadas entre la puntuación de la subescala PMAL-R HO y GMFCS y CFCS (r1=-0,549 y r2=-0,567). Conclusión: La cantidad de uso de la extremidad superior más afectada es más sensible a MACS que a GMFCS-E&R y CFCS. Los niños con un nivel dado de MACS reflejaron un rango más amplio en la puntuación de la subescala PMAL-R HO. Además de MACS, debería incluirse una puntuación en la subescala PMAL-R HO relacionada con la extremidad superior más afectada, como criterio de inclusión en los ensayos clínicos, para evitar efectos confusos de los enfoques de intervención, de cara a mejorar la cantidad de uso de la extremidad superior más afectada en niños con PC hemipléjica congénita.(AU)


Subject(s)
Humans , Male , Female , Child , Cerebral Palsy , Physical Functional Performance , Upper Extremity/physiopathology , Motor Skills , Caregivers , Communication , Rehabilitation/methods , Rehabilitation Services , Prospective Studies , Motor Activity
2.
Rehabilitacion (Madr) ; 57(4): 100784, 2023.
Article in English | MEDLINE | ID: mdl-36739683

ABSTRACT

OBJECTIVE: To investigate relationships between amount of use of the more affected upper extremity and functional motor and communication performance classification systems. MATERIAL AND METHODS: The study comprised 95 children with congenital hemiplegic cerebral palsy (CP) aged 6-15 years (52 males, 43 females; mean age 9.53, SD 3.1) and their parents/caregivers. The amount of use of the more affected upper extremity was assessed using Pediatric Motor Activity Log-Revised-How Often subscale (PMAL-R HO). Functional levels of the enrolled children were defined by the parents/caregivers using Manual Ability Classification System (MACS), Gross Motor Function Classification System-Expanded and Revised (GMFCS-E&R), and Communication Function Classification System (CFCS). RESULTS: A strong and negative correlation was found between PMAL-R HO subscale score and MACS (r=-0.819), suggesting that children with lower MACS levels are more likely to use their more affected upper extremity spontaneously. Additionally, negative and moderate associations between PMAL-R HO subscale score and GMFCS and CFCS were revealed (r1=-0.549 and r2=-0.567). CONCLUSION: The amount of use of the more affected upper extremity is more sensitive to MACS than GMFCS-E&R and CFCS. Children with a given MACS level had a wide range of PMAL-R HO subscale score. In addition to MACS, a score on the PMAL-R HO subscale related to the more affected upper extremity should be included as an inclusion criterion in clinical trials to avoid misleading effects of intervention approaches aimed at improving the amount of use of the more affected upper extremity in children with congenital hemiplegic CP.


Subject(s)
Caregivers , Cerebral Palsy , Child , Female , Humans , Male , Communication , Cross-Sectional Studies , Disability Evaluation , Hemiplegia , Motor Skills , Severity of Illness Index , Upper Extremity , Adolescent
3.
Hand Surg Rehabil ; 41(4): 487-493, 2022 09.
Article in English | MEDLINE | ID: mdl-35654339

ABSTRACT

Obstetric brachial plexus palsy (OBPP) leads to various hand-function disorders. The present study aimed to determine activity-based hand function profiles in preschool children with different OBPP functional levels. 112 children aged 44-77 months were included, and grouped on the Narakas classification: group 1, Narakas type 1; group 2, type 2: and group 3, types 3 + 4. Hand function was evaluated on the Raimondi scale, stereognosis, and the elbow/forearm and wrist/finger/thumb sections of Brachial Plexus Outcome Measure (BPOM). Groups 1 and 2 successfully and comparably completed the BPOM hand activities (p > 0.05), while Group 1 had better results than Group 2 for BPOM elbow/forearm activities (p < 0.001): Group 2 had difficulty in activities involving elbow flexion, supination and pronation, whereas Group 1 had difficulty only in activities involving supination. Comparatively, Group 3 had lower scores for Raimondi scale (p < 0.001), BPOM-hand (p < 0.001), BPOM-elbow/forearm (p < 0.001) and stereognosis (p < 0.001). According to the literature, hand functions are conserved in upper-root brachial plexus injury and there is no need to evaluate them, but our results showed activity restrictions related to hand functions involving forearm rotation. In children with total plexus injury, grasp was absent and thumb function was deficient. The present showed that these restrictions can be identified by population-specific activity-based assessment.


Subject(s)
Brachial Plexus Neuropathies , Brachial Plexus , Brachial Plexus/injuries , Child, Preschool , Female , Humans , Paralysis , Pregnancy , Pronation , Supination
5.
Hand Surg Rehabil ; 41(1): 78-84, 2022 02.
Article in English | MEDLINE | ID: mdl-34655823

ABSTRACT

The purpose of the study was to investigate families' concerns and service requirements during the Covid-19 lockdown. In case of tele-consultation, we also aimed to assess the effects of this service on coping and the family's worries. At end of lockdown, we contacted the parents of 67 obstetric brachial plexus palsy patients (0-10 years age) by e-mail. During lockdown, 42 of the families had had a tele-consultation with our team, while 25 reported that not receiving any service. A questionnaire consisting of 6 questions was sent to the families, and data were analyzed according to 4 age-groups. Parents' concerns varied according to the children's age group (p = 0.001). All families replied that their children should receive remote services during Covid-19-like situations (p = 0.173). Parents of the 42 children who had tele-consultations reported that this had alleviated their worries, independently of age-group (p = 0.160). The usefulness of tele-consultation to manage the lockdown situation differed according to age-group (p = 0.002). The parents of under-3-year-olds experienced more worry during lockdown, but all respondents reported needing remote services. Although the tele-consultation alleviated the worries of almost all families, it was most useful in managing lockdown in families with under-3-year-olds.


Subject(s)
Brachial Plexus , COVID-19 , Child , Child, Preschool , Communicable Disease Control , Humans , Paralysis , SARS-CoV-2
6.
Hand Surg Rehabil ; 40(6): 722-728, 2021 12.
Article in English | MEDLINE | ID: mdl-34454162

ABSTRACT

The aim of this study was to investigate the effect of hand deformity on upper-limb function and health-related quality of life (HRQOL) in children with hemiplegic cerebral palsy (CP). The study included 44 children with hemiplegic CP between the ages of 6 and 14 years (mean age, 10.04 years; SD, 3.1; 23 males, 21 females). The Manual Ability Classification System (MACS) and Gross Motor Function Classification System (GMFCS) were used, with the Zancolli classification to characterize hand deformities on the more affected side. Upper-limb function was assessed in terms of unilateral capacity (Quality of Upper Extremity Skills Test: QUEST) and bimanual performance (Children's Hand-use Experience Questionnaire: CHEQ), while HRQOL was evaluated on the KIDSCREEN-27 questionnaire. Comparison of bimanual performance and unilateral capacity in children with Zancolli level 1 and 2a hemiplegic CP found statistically significant differences (p < 0.01). There was also a significant difference on the HRQOL 'physical activities and health' subdomain, in favor of Zancolli level I deformity (p = 0.003), but not on the other HRQOL domains (p > 0.05). Upper-limb function and the HRQOL physical health domain were poorer with greater hand deformity in children with hemiplegic CP.


Subject(s)
Cerebral Palsy , Hand Deformities , Adolescent , Cerebral Palsy/complications , Child , Female , Hemiplegia , Humans , Male , Muscle Spasticity , Quality of Life , Upper Extremity
8.
Clin Exp Obstet Gynecol ; 38(3): 217-20, 2011.
Article in English | MEDLINE | ID: mdl-21995149

ABSTRACT

OBJECTIVES: To evaluate iatrogenic urinary tract system injuries in obstetrics and gynecology operations and compare the results with the literature. PATIENTS AND METHODS: We examined the records of patients who had obstetric and gynecology operations at the Ministry of Health, Dr. Zekai Tahir Burak Women's Health, Training and Research Hospital between June 2007 and June 2010. All the patients who were diagnosed as having urinary system injuries in either the intraoperative or postoperative period were determined. RESULTS: During this period, 25,998 gynecologic and obstetrical operations were performed, 0.03% ureteric, 0.20% bladder, and one case of urethral injury, in a total of 0.24% urinary tract injuries were observed. The bladder was the most frequently injured organ. Total urinary tract injury rates were 0.79% (0.49% bladder, 0.24% ureteral) in gynecologic operations and 0.19% (0.18% bladder and 0.01% ureteral) in obstetric operations. CONCLUSION: Urinary system injuries are seen in approximately 1% of all gynecologic and obstetric surgeries. The complication rates observed in our patients were comparable with the other studies in the literature. A gynecologic surgeon must become familiar with the anatomy of the urinary tract and must be aware of common intraoperative and postoperative complications to decrease the risk of morbidity.


Subject(s)
Gynecologic Surgical Procedures/adverse effects , Obstetric Surgical Procedures/adverse effects , Urinary Tract/injuries , Adult , Female , Humans , Middle Aged , Vesicovaginal Fistula/etiology , Young Adult
9.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 2): o291, 2011 Jan 08.
Article in English | MEDLINE | ID: mdl-21522983

ABSTRACT

The title mol-ecule, C(21)H(30)N(2)O(5), is chiral with four stereogenic centres. The crystal is a racemate and consists of enanti-omeric pairs with the relative configuration rac-(6S*,7R*,8R*,9S*). The ethyl fragment of the eth-oxy-carbonyl group at position 6 is disordered in a 0.46 (3):0.54 (3) ratio. The crystal structure features inter-molecular N-H⋯O. Intra-molecular O-H⋯N and N-H⋯O hydrogen bonds also occur.

11.
Genet Couns ; 19(3): 277-80, 2008.
Article in English | MEDLINE | ID: mdl-18990982

ABSTRACT

An apparently balanced reciprocal translocation between the long arm of the Y chromosome and the long arm of the chromosome 16 t(Y;16)(q12;q13) is described in an infertile man with azoospermia and cryptorchidism. The patient was phenotypically normal and had bilateral inguinal hernia repair with orchidopexy at the age of 8 years. Histological examination of testicular biopsies revealed maturation arrest. Y/autosome translocations in the literature are relatively rare and mostly associated with infertility. To our knowledge, this is the sixth report about the reciprocal t(Y;16) translocation in the literature but the first presenting with cryptorchidism.


Subject(s)
Azoospermia/genetics , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Y/genetics , Cryptorchidism/genetics , Sex Chromosome Aberrations , Translocation, Genetic/genetics , Adult , Chromosome Breakage , Humans , Infertility, Male/genetics , Karyotyping , Male
12.
Science ; 293(5532): 1107-12, 2001 Aug 10.
Article in English | MEDLINE | ID: mdl-11498583

ABSTRACT

Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.


Subject(s)
Hypertension/genetics , Mutation , Protein Serine-Threonine Kinases/genetics , Pseudohypoaldosteronism/genetics , Amino Acid Sequence , Base Sequence , Chromosome Mapping , Chromosomes, Human, Pair 12/genetics , Chromosomes, Human, Pair 17/genetics , Cytoplasm/enzymology , Female , Gene Expression Regulation, Enzymologic , Genetic Linkage , Humans , Hypertension/enzymology , Hypertension/physiopathology , Intercellular Junctions/enzymology , Intracellular Signaling Peptides and Proteins , Introns , Kidney Tubules, Collecting/enzymology , Kidney Tubules, Collecting/ultrastructure , Kidney Tubules, Distal/enzymology , Kidney Tubules, Distal/ultrastructure , Male , Membrane Proteins/metabolism , Microscopy, Fluorescence , Minor Histocompatibility Antigens , Molecular Sequence Data , Mutation, Missense , Pedigree , Phosphoproteins/metabolism , Protein Serine-Threonine Kinases/chemistry , Protein Serine-Threonine Kinases/metabolism , Pseudohypoaldosteronism/enzymology , Pseudohypoaldosteronism/physiopathology , Sequence Deletion , Signal Transduction , WNK Lysine-Deficient Protein Kinase 1 , Zonula Occludens-1 Protein
13.
J Neurosurg ; 93(4): 554-60, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11014532

ABSTRACT

OBJECT: The endovascular procedure can provide proximal control, suction decompression, and prompt intraoperative angiography during microsurgical clipping of aneurysms of the paraclinoid segment of the internal carotid artery (ICA). The authors assess the safety and feasibility of this method in 24 consecutive cases. METHODS: Frontotemporal craniotomy and radical pterionectomy were performed with the patient's head immobilized in a radiolucent frame while femoral artery catheterization was achieved. Before dural opening, a balloon catheter with a coaxial lumen was positioned and tested in the ICA, after which microsurgical exposure was completed, including intradural clinoid drilling and optic canal decompression. Trapping of the lesion was achieved by inflating the balloon and placing a temporary clip beyond the aneurysm neck. The catheter was gently aspirated to achieve suction decompression and to facilitate clip application. Intraoperative digital subtraction angiography was then performed. Twenty-two aneurysms were larger than 10 mm, and 11 of them were giant. Six patients presented with subarachnoid hemorrhage and nine with visual symptoms. Balloon occlusion and suction decompression were performed in 16 cases (67%), and proximal control alone in 1 case. Intraoperative angiography was performed in every case. Subsequent clip readjustment was necessary in seven cases, including three cases of residual aneurysm filling and four of ICA compromise. Complete aneurysm obliteration was achieved in 20 cases, and greater than 90% obliteration in 22. One major infarct likely related to catheter thromboembolism was found. There were no instances of visual deterioration or other complications attributable to the endovascular procedure. CONCLUSIONS: The endovascular method allows safe and reliable proximal control, suction decompression, and intraoperative angiography in microsurgical treatment of large paraclinoid aneurysms.


Subject(s)
Carotid Artery Diseases/surgery , Catheterization , Intracranial Aneurysm/surgery , Surgical Instruments , Aged , Carotid Artery Diseases/therapy , Carotid Artery, Internal/surgery , Cerebral Angiography , Decompression, Surgical , Female , Humans , Intracranial Aneurysm/therapy , Intraoperative Care , Male , Middle Aged , Treatment Outcome
14.
Neurosurg Clin N Am ; 11(2): 351-64, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10733850

ABSTRACT

Perioperative complications of carotid endarterectomy (CEA) are uncommon but potentially devastating. The authors review strategies aimed at minimizing morbidity of surgical treatment of carotid occlusive disease. Multiple components of the perioperative course of patients who undergo CEA must be tightly controlled to maintain an acceptably low complication rate. These factors comprise appropriate patient selection, including careful assessment of techniques aimed at prevention and monitoring of intraoperative complications and postoperative care.


Subject(s)
Endarterectomy, Carotid/methods , Intraoperative Complications/prevention & control , Postoperative Complications/prevention & control , Female , Humans , Male , Risk Factors
15.
Hum Mol Genet ; 7(12): 1851-8, 1998 Nov.
Article in English | MEDLINE | ID: mdl-9811928

ABSTRACT

Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent strokes and/or seizures. A significant fraction of cases is inherited as an autosomal dominant trait with incomplete penetrance. Among Hispanic Americans, virtually all CCM is attributable to a founder mutation localized to 7q ( CCM1 ). Recent analysis of non-Hispanic Caucasian kindreds, however, has excluded linkage to 7q in some, indicating at least one additional CCM locus. We now report analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial CCM. In addition to linkage to CCM1, analysis of linkage demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus). Multipoint analysis among families with high posterior probabilities of linkage to each locus refines the locations of CCM2 and CCM3 to approximately 22 cM intervals. Linkage to these three loci can account for inheritance of CCM in all kindreds studied. Significant locus-specific differences in penetrance are identified. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the molecular basis of this disease.


Subject(s)
Cerebrovascular Disorders/genetics , Chromosomes, Human, Pair 3/genetics , Chromosomes, Human, Pair 7/genetics , Genes/genetics , Intracranial Arteriovenous Malformations/genetics , Chromosome Mapping , Female , Genetic Linkage , Genetic Markers , Humans , Lod Score , Male , Pedigree
16.
Pharmacol Res ; 37(6): 485-91, 1998 Jun.
Article in English | MEDLINE | ID: mdl-9695122

ABSTRACT

It is thought that glutamate (GLU) and acetylcholine (ACh) are co-released in the neuromuscular junction (NMJ). Consequently, GLU is also a mediator or modulator of neuromuscular transmission (n-m) together with ACh. Therefore we decided to investigate the role of GLU in n-m by using isolated rat phrenic nerve-hemidiaphragm preparations. Since the GLU receptors present at NMJ have been reported to be predominantly N-methyl-D-aspartate (NMDA) subtype, some non-competitive and competitive NMDA receptor blockers, MK801, ketamine, dextromethorphan and CGP 37849, and GLU release inhibitors, clonidine, guanfacine, tizanidine were used at their optimum concentrations in medium after having found them from dose-response curves. The preparations were first stimulated indirectly in the presence of the optimum concentrations of the drugs used and tensions developed were recorded isometrically through a force displacement transducer on a polygraph linked to a computer + Math coprocessor by an analog converter. All drugs at their optimum concentrations suppressed contractions significantly. Prolyl-glycinamide (PLG) or phenyl-succinate, both of which are the inhibitors of GLU production also suppressed the contraction significantly, following depletion of GLU stores by tetanic contraction in nerve endings. 4-Aminopyridine, which has been shown to release GLU augmented the contractions which were also completely abolished by the NMDA receptor antagonists or GLU release inhibitors at their higher concentrations than their optimum ones. The direct stimulation of the muscles elicited statistically insignificant but higher contractions than controls at the optimum concentrations of the antagonists or inhibitors in medium. The results were discussed and it was concluded that blockade of NMDA receptors, the inhibition of GLU released or the suppression of GLU production inhibit the contractions of the rat-isolated hemidiaphragms elicited by indirect electrical stimulation, without altering acetylcholinergic part of the contraction cascade.


Subject(s)
4-Aminopyridine/pharmacology , ATP-Binding Cassette Transporters/drug effects , Excitatory Amino Acid Antagonists/pharmacology , Glutamic Acid/pharmacology , Neuromuscular Junction/drug effects , Receptors, N-Methyl-D-Aspartate/drug effects , 2-Amino-5-phosphonovalerate/analogs & derivatives , 2-Amino-5-phosphonovalerate/pharmacology , ATP-Binding Cassette Transporters/physiology , Amino Acid Transport System X-AG , Animals , Diaphragm/drug effects , Diaphragm/physiology , Male , Muscle Contraction , Neuromuscular Junction/physiology , Phrenic Nerve/drug effects , Phrenic Nerve/physiology , Rats , Rats, Wistar , Receptors, N-Methyl-D-Aspartate/physiology
17.
Nat Genet ; 13(4): 384-5, 1996 Aug.
Article in English | MEDLINE | ID: mdl-8696326
18.
Neurosurgery ; 38(6): 1265-71, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8727164

ABSTRACT

OBJECTIVE: Cerebral cavernous malformation (CCM) is frequently an inherited disorder showing autosomal dominant transmission. Genetic analysis has localized a gene causing CCM to a segment of the long arm of human chromosome 7 (7q). This evidence derives from investigation of a small number of families, mostly of Hispanic American descent. In this study, we have tested whether inherited CCM is always due to mutation in this 7q gene, or whether mutation in other genes can cause CCM. METHODS: We have studied subjects from two non-Hispanic families with inherited CCM. The clinical features of CCM in these families are indistinguishable from those in kindreds in which CCM is due to mutation in the 7q gene. To test whether CCM in these kindreds is caused by a mutation on 7q, we compared the inheritance of CCM to the inheritance of genetic markers on 7q. RESULTS: Genetic analysis demonstrates independent inheritance of CCM and markers on 7q in both families studied. This evidence excludes mutation in the 7q gene as the cause of CCM in these families, with odds against CCM being due to mutation in 7q in each family of more than 100,000:1 and 100:1, respectively. CONCLUSION: These findings demonstrate that inherited CCM is not always caused by a mutant gene on 7q, indicating the presence of at least a second gene in which mutation can cause CCM. These results have implications for genetic testing and the pathogenesis of this disorder.


Subject(s)
Brain Neoplasms/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 7 , Genes, Dominant/genetics , Hemangioma, Cavernous/genetics , Adult , Child , Chromosome Disorders , DNA Mutational Analysis , Female , Genetic Counseling , Genetic Linkage/genetics , Genetic Markers/genetics , Hispanic or Latino/genetics , Humans , Male , Models, Genetic , Pedigree , Phenotype
19.
N Engl J Med ; 334(15): 946-51, 1996 Apr 11.
Article in English | MEDLINE | ID: mdl-8596595

ABSTRACT

BACKGROUND: Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral hemorrhage. Familial and sporadic cases are recognized, and a gene causing familial disease has been mapped to chromosome 7. Hispanic Americans have a higher prevalence of cavernous malformation than do other ethnic groups, raising the possibility that affected persons in this population have inherited the same mutation from a common ancestor. METHODS: We compared the segregation of genetic markers and clinical cases of cavernous malformation in Hispanic-American kindreds with familial disease; we also compared the alleles for markers linked to cavernous malformation in patients with familial and sporadic cases. RESULTS: All kindreds with familial disease showed linkage of cavernous malformation to a short segment of chromosome 7 (odds supporting linkage, 4X10(10).1). Forty-seven affected members of 14 kindreds shared identical alleles for up to 15 markers linked to the cavernous-malformation gene, demonstrating that they had inherited the same mutation from a common ancestor. Ten patients with sporadic cases also shared these same alleles, indicating that they too had inherited the same mutation. Thirty-three asymptomatic carriers of the disease gene were identified, demonstrating the variability and age dependence of the development of symptoms and explaining the appearance of apparently sporadic cases. CONCLUSIONS: Virtually all cases of familial and sporadic cavernous malformation among Hispanic Americans of Mexican descent are due to the inheritance of the same mutation from a common ancestor.


Subject(s)
Brain Neoplasms/genetics , Chromosomes, Human, Pair 7 , Hemangioma, Cavernous/genetics , Hispanic or Latino/genetics , Intracranial Arteriovenous Malformations/genetics , Mutation , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Genetic Linkage , Humans , Male , Middle Aged , Pedigree
20.
Brain Res ; 686(2): 182-93, 1995 Jul 24.
Article in English | MEDLINE | ID: mdl-7583284

ABSTRACT

The distribution of the VIP receptor in the human hippocampus was studied by receptor autoradiography using [3-iodotyrosyl-125I]Vasoactive Intestinal Peptide (VIP) as a ligand, and the relationship of receptor distribution to the distribution of the peptide (visualized by immunocytochemistry) was examined in hippocampi surgically removed from patients with medically intractable temporal lobe epilepsy (TLE) and hippocampi obtained at autopsy from neurologically normal subjects. In the autopsy hippocampi and hippocampi from TLE patients with extrahippocampal temporal lobe lesions [125I]VIP binding was highest in the dentate molecular layer, with lower levels in the fields of Ammon's Horn (CA fields) and the subiculum. In hippocampi from patients with no temporal lobe lesions but considerable hippocampal neuronal loss there were significant elevations in the levels of ligand binding in all CA fields and the subiculum. Ligand binding densities in all CA fields of the patient hippocampi were strongly negatively correlated with neuronal numbers. Immunocytochemical localization of VIP shows no obvious change in the distribution patters of VIP immunoreactivity in the patient groups. This is the first demonstration of VIP and its receptor distribution in the human hippocampus. It is suggested that the elevated levels of receptor binding in the hippocampal seizure focus may indicate a mechanism for greater excitability of neurons and/or for their survivability in the face of the increased excitation and potential for injury in a seizure focus.


Subject(s)
Epilepsy, Temporal Lobe/metabolism , Receptors, Vasoactive Intestinal Peptide/metabolism , Vasoactive Intestinal Peptide/metabolism , Adolescent , Adult , Cell Count , Child , Epilepsy, Temporal Lobe/pathology , Female , Hippocampus/metabolism , Hippocampus/pathology , Humans , Immunohistochemistry , Male , Middle Aged , Neuroglia/pathology , Neurons/pathology
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