Anterior Talofibular Ligament Augmentation With Internal Brace in the Office Setting.

The anterior talofibular ligament (ATFL) is the most frequently injured lateral ligament of the ankle, and up to 20% of patients with ankle sprains may require surgical intervention to correct chronic lateral ankle instability. There has been increased interest in arthroscopic lateral ankle ligament repair techniques to minimize postoperative pain and expedite recovery. Additionally, the use of suture-tape augmentation may allow for improved recovery in those with ATFL reconstruction.

Micropulse Trabeculoplasty in Open Angle Glaucoma.

Background: We report the effect of micropulse laser trabeculoplasty (MLT) in the intraocular pressure (IOP) of patients with uncontrolled open-angle glaucoma (OAG).

Materials And Methods: In this retrospective review, 30 eyes with OAG were treated with a single session of MLT at the Vista Clinic in Lima Perú. We used a 532 nm frequency doubled Nd: YAG laser to 360° of the trabecular meshwork with a power of 1000 mW, 15% of the duty cycle, and 300 ms of exposure.

Associations among Life Events, Empathic Concern, and Adolescents' Prosocial and Aggressive Behaviors Toward Specific Targets.

The goal of the present study was to examine the links between life events and adolescents' social behaviors (prosocial and aggressive behaviors) toward specific targets and to examine how empathic concern may play a role in these associations. The study examined two hypotheses: both the mediating role of empathic concern and the moderating role of empathic concern. The sample included 311 high school students from the Midwest (M age = 16.

MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C Polymorphisms and Disease Activity in Mexicans with Rheumatoid Arthritis Treated with Methotrexate.

Aim: To investigate the relationships of polymorphisms in genes whose protein products are related in the metabolic pathway of folic acid, particularly MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C, and disease activity in Mexican patients with rheumatoid arthritis (RA) treated with methotrexate (MTX).

Materials And Methods: Sixty-eight patients with RA were included in the study who were being treated with MTX, either with or without other drugs. In addition to general data, disease activity was measured by the disease activity score 28 (DAS28).

Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts.

MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis.

MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis.

Wide clinical spectrum in Zimmermann-Laband syndrome.

Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients.

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.

3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome 3p26. We present a child patient with characteristic features of 3p deletion syndrome and a de novo unbalanced translocation involving chromosomes 3 and 13.

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

Background: Hypotrichosis simplex of the scalp (HSS; MIM 146520) is a rare autosomal dominant form of non-syndromic alopecia that affects men and women equally. Up to now, only a small number of families with HSS have been reported. The affected individuals experience a diffuse progressing hair loss from childhood to adulthood that is confined to the scalp.

Second female case of Myhre syndrome.

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Background: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular defects have been described. A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified.

Myhre syndrome: first female case.

A 15 year old girl with the Myhre type growth-mental retardation syndrome is described. This is the first female case reported in the literature. The inheritance pattern of this condition is not clear.

A variant example of familial Floating-Harbor syndrome?

The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested.

Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.

We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point.

Ring-20-syndrome and loss of telomeric regions.

A patient aged 10 years and 8 months with a ring-20-syndrome was studied. Clinically he presented normal psychomotor development until 25 months of age when he began with right simple partial motor seizures. He presented minimal dysmorphism, generalized tonic-clonic seizures refractory to medical therapy and behavioral troubles.

Reproductive history in mothers of children with neural tube defects.

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes.

An extra idic(21)(q22.1) in a child with some features of Down's syndrome.

A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t", and ulnar loops on both forefingers was found to have a 47,XY, + psu idic(21)(q22.1).ish psu idic(21)(q22.