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At least 1,009 records · Page 56Linked to original sources
PubMed1999

Time-tracking system enhances clinical laboratory efficiency.

Lab information system is a lean, mean time-tracking machine. Reorganizing around a laboratory information system (LIS) allowed the primary care Chester County (SC) Hospital to develop a model of streamlined efficiency that ranks very favorably against peer benchmarks in terms of productivity and cost-efficiency. Key components are "auto-merge" and "auto-release" features that dramatically speed up lab test processing, but raised eyebrows among clinical lab staff.

Clinical Laboratory Information Systems↗
PubMed1999

Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis.

Common variable immune deficiency (CVID) is associated with a variety of autoimmune diseases. Alopecia universalis (AU), believed to have an autoimmune basis, has been found in 1.6% of patients with CVID. Intravenous immunoglobulin (IVIG) therapy is used in various immunodeficiency disorders including CVID, and benefit has been shown in the therapy of autoimmune diseases. We report a patient with CVID and AU treated with IVIG who experienced significant hair regrowth. An 8-year-old girl with CVID and AU was treated with IVIG 400 mg/kg every 4 weeks. Since her second dose of IVIG, regrowth of eyelashes, eyebrows, body and scalp hair was observed in this patient. At present, about 1 year treat-meant of IVIG, significant hair regrowth is noted with 5-6 cm of scalp hair. We believe that IVIG may be beneficial in the treatment of AU, at least in patients with CVID.

Alopecia↗
PubMed1999

Probing the human genome in search for a new 3q syndrome.

We report a case of partial trisomy 3q syndrome which could not be clinically identified as a distinct entity. The major clinical findings include: psychomotor delay with behavioral problems, coarse facial features, frontal bossing, bushy eyebrows, prominent ears, a small upturned nose and a history of repaired inguinal hernia. There was an additional material on chromosome 4, which could easily be matched with bands 18q21.2-q22; 2p24-p25; 16p21-p23; 10p12-p14; 20q12-q13.2; 15q25-q26.2; 8p23-p24.2 and 6p22.3-p24 and a new syndrome could apparently be suggested based on GTG techniques alone. Nevertheless, by FISH technique, the extra segment was identified as a part of 3q26.3-qter. We provide an extensive review of trisomy 3q syndrome and present a caveat of the consequences of description of new syndromes based on routine banding techniques especially in situations where the origin of chromosomal abnormalities is de novo or parents are not available for cytogenetic evaluation.

Child↗
PubMed1998

[Multiple-layer composite rhytidectomy].

OBJECTIVE: The multiple-layer composite rhytidectomy is presented in this paper for correction of the facial aging. METHODS: The operative procedures include multiple-layer dissection, suspension reconstruction of the zygomatic ligament, and thinning of the zygoma. RESULTS: The method has produced a good result in 28 patients since 1993. CONCLUSION: Study of clinical cases and cadaver dissections had led to better understanding of the aging face. With advancing age, all tissues of the face lose their balanced relationship. These changes occur in their volume shape, position, and consistency. With the multiple-layer dissection and suspension, the soft tissues of the check, forehead, nasolabial fold, lateral canthus and eyebrow can be lifted to reestablish their previously youthful relationship with the underlying skeleton.

Aged↗
PubMed1999

Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.

We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. Hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness)

Abnormalities, Multiple↗
PubMed1975

The utilization of dental skills in non-dental situations.

The development of electronic control systems has enabled severely physically handicapped people to revolutionize their lives by using any minimal residual movements they may have to operate micro-switches linking them with typewriters and other environmetal controls. Technical skills of a high order are required in making the unique splint or interface which links the switches with these residual movements whether of the tongue, lips, chin, eyebrow, finger or toe. Through the initiative of the Cordent Trust and generous financial support from the Leverhulme Trust a mobile laboratory was designed and built and a dental technician appointed for a three-year development project in the use of these switches as it was felt that his experience was particularly appropriate to the work and would also demonstrate how dental skills can be used to bring about a degree of rehabilitation far beyond the oral environment.

Electronics, Medical↗
PubMed2000

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.

The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.

Abnormalities, Multiple↗
PubMed1999

[Methods for resolving facial carcinomatosis].

This study presents the case of a patient of 57 years old, hospitalized in the Dept. Ophthalm. of the City Hospital of Arad, presenting a face carcinomas with the following locations: the inferior left eyelid, the area between the eyebrows, the nose pyramid, the right nasogenian area, the right preauricular area. The surgical intervention was made in one step the had oncologic free borders, and the recovery of the skin and of the mucous membranes were performed through plastic surgeries. After one year from the intervention, the patient did not present recurrence.

Basal Cell Carcinoma↗
PubMed2000

Ring chromosome 22 and autism: report and review.

Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows, 2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-year-old boy with ring chromosome 22 and 46,XY,r(22)(p11.31-q13.31 approximately q13.33) karyotype presented with global developmental delay, autistic disorder, and dolichocephaly, apparently low-set and large ears, midface hypoplasia, and 2-3 toe syndactyly. This is the second report of a ring chromosome 22 with autistic disorder. There appears to be an association between abnormalities of chromosome 22, including r(22), and autistic disorder; however, this occurrence may be a result of the association of autistic disorder with mental retardation rather than specifically due to r(22). The physical findings in this case also suggest that ring chromosome 22 causes a subtle but distinct phenotype which has previously been proposed.

Abnormalities, Multiple↗
PubMed1999

Assessing an active distracting technique for local anesthetic injection in pediatric dental patients: repeated deep breathing and blowing out air.

The aim of the study was to assess the effect of an active distraction technique that included the repeated breathing and blowing out of air on the pain behavior and facial display of children receiving local anesthesia injections prior to dental treatment. Fifty children between the ages of 3 and 7 years and who were undergoing dental treatment in a pediatric dental clinic were selected for this study. The children were randomly assigned to an intervention group or to a control group. The intervention group of 25 children was told to repeatedly breathe deeply before and during the administration of the injection and to blow the air out. The 25 control group children were given the injection in the slow manner without the repeated breathing and air blowing. Children in the intervention group demonstrated significantly less eyelid squeezing (P = 0.04). Also, more children in the intervention group than in the control group significantly expressed their wish to have the same technique used during the second visit (p = 0.033). Children in the intervention group generally demonstrated less hand and torso movements, less eyebrow bulging, and expressed less pain than in the control group. Boys significantly reported less pain after the injection. The results of this study indicate some advantages of distraction techniques (deep breaths and blowing air) prior to and during the administration of a local anesthetic injection in children.

Anesthesia, Dental↗
PubMedDate not supplied

Hallerman-Streiff syndrome.

A 3 day old female neonate with Hallerman Streiff Syndrome presented with white spots in both the eyes. Both eyebrows and eyelashes were found to be sparse. Anterior chamber was found to be shallow. Total cataract was detected with posterior synechiae. Fundus could not be viewed. General examination revealed other features of Hallerman-Streiff Syndrome--short stature, bird like face, atrophy of skin and natal teeth. Lensectomy was carried out for left eye at the age of 10 weeks. However, the child had repeated respiratory tract infections and died at the age of 22 weeks.

Fatal Outcome↗
PubMed2000

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

Waardenburg syndrome Type I (WS1) is an autosomal dominant disorder that has previously been associated with mutations in the PAX3 gene on the 2q35 region. In this study, we used an Iranian WS1 family with seven affected individuals in three generations. The phenotypic characteristics of the family include sensorineural deafness, dystopia canthorum, hypopigmented skin patches of the upper limbs, congenital white forelock, confluent white eyebrows, nonpigmented iris, poliosis, and hypopigmentation of the retina. Herein, we report a previously unidentified single-base substitution in exon II (C-->T at position 218) that results in a change of serine to leucine (S73L) in this family. This change was not observed in 100 chromosomes of healthy unrelated individuals. This mutation is within the PAX3 paired domain region, a structure that is highly conserved and implicated in DNA binding. This is the first identification of a PAX3 mutation for this phenotype in the Iranian population. This also provides additional confirmation for the involvement of this gene in the etiology of WS1.

Adolescent↗
PubMed1975

The 12p trisomy syndrome.

Trisomy for the short arm of chromosome number 12 was diagnosed (by a G-banding method) in a girl with multiple congenital defects. Her mother and two sisters showed a balanced translocation 46,XX,rcp(12;21)(p11;p11), so, the affected girl was the result of a maternal adjacen t-1 meiotic segregation with a karyotype 46,XX,der21,rcp(12;12)(p11;q11)mat. Another sister decreased at 3 yr of age showed similar phenotypical features and was considered also affected although no karyotype studies were performed. Both affected cases were compared with a previous one and the concordant characteristics allowed the individualization of the following syndrome: severe mental retardation, peculiar flat facies with prominent checks, epicanthic folds, broad and irregular implantation of the eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils and large philtrum, broad and prominent lower lip, low set ears with folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia of knees and ankles, nistagmus, retarded and dysrythmic bone age, simian creases or equivalent and distal axial triradii.

Abnormalities, Multiple↗
PubMed2000

Neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is a rare disease characterized by the transplacental passage from the mother to the fetus of autoantibodies, in particular anti-Ro(SS-A), anti-La(SS-B), or both. The majority of infants with NLE exhibit isolated congenital heart block, cutaneous lesions analogous to those of adult subacute cutaneous lupus erythematosus, or both. We report a case of NLE in a 3-month-old male infant, born to a clinically asymptomatic mother, presenting small, annular, erythematous plaques with sharp, hyperkeratotic borders and central clearing localized at the eyebrow region. Both the infant and the mother were positive for anti-Ro(SS-A).

Adult↗
PubMed2000

[A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure].

We report a 7-year-old girl with epilepsy, congenital alopecia, and mental retardation. She was hairless at birth. Very scanty hair, eyebrows and eyelashes appeared at 2 years of age. Developmental delay was first recognized at 6 years. Nocturnal partial seizures occurred at 4 years, and atypical absence in waking at 6 years. Electroencephalogram showed spike-waves in the centrotemporal area which increased and developed into a generalized continuous spike and wave complexes upon sleeping at the age of 7 years 1 month. Ictal electroencephalogram in atypical absence showed generalized 3 c/s spike and wave complexes. Skin biopsy of the scalp showed scanty, immature hair follicles and immature sebaceous glands. Whether this case is related to ectodermal dysplasia is unclear.

Alopecia↗
PubMed1975

[Trichotillomania as a phenomenon of unexplained loss of hair in childhood (author's transl)].

As a contribution to the differential diagnosis of ambiguoug "loss of hair" we forward a report on 24 children and 2 adolescents with trichotillomania. Patients with this pathological habit tear out hair from their own head -- sometimes eyelashes or eyebrows as well -- mostly in unobserved moments. Therefore the diagnosis is frequently delayed for months or even years. Most of these patients have normal intelligence are motorically overactive, and sensitive. They suffer from a lack of selfne assurance, and an inhibition to establish initial social contacts or to give expression to their aggressive tendencies. The manipulation of their own body serves as an outlet for the inner and outer strain resulting form the pressures of a permanent conflict-situation. The calming effect, combined with the apparently highly satisfying physical experience, induced repetition and the development of a fixed habit. In early childhood the factors contributing to the emotional strain are almost always found in a conflicting mother-child relationship, very often against the background of a general deficiency in family interaction. Moreover at school level the symptom occurs most frequently as a result of pressure on the child to achieve more. Trichotillomania has to be considered in children with focal or diffuse alopecia in areas of normal scalp, where almost no hair is lost by combing or gentle pulling. The trichogram gives specific results. Diagnosis must be based on a behaviour analysis and psychodiagnosis of the child. In addition, personal interactions within the family must be investigated. The first goal of therapy is the elimination of the emediate causes through counselling the parents. The improvement of the child's ability to communicate is essential. Depending on the age of the child the approach to the treatment of the social disturbances through psychotherapy or medical pedagogy should be combined with a symptom--centered treatment through behaviour therapeutical techniques with the aim of eliminating this fixed habit.

Adolescent↗
PubMed2001

Noonan syndrome: a case with recurrent keloid formation.

We describe a 6-year-old boy who presented with erythema and horny, follicular papules on the lateral aspects of the eyebrows and extensor surfaces of the arms. The condition was diagnosed as ulerythema ophryogenes and keratosis pilaris atrophicans faciei. The patient had the characteristic features of Noonan syndrome, including dysmorphic facial appearance, congenital heart disease, pectus excavatum, and cubitus valgus, accompanied by a tendency for keloid formation.

Child↗
PubMed2001

A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study.

We investigated the electroclinical features of 12 patients with childhood absence epilepsy (CAE), presenting with typical absence seizures associated with myoclonic manifestations of the face or neck. All patients underwent repeated and prolonged split-screen video-polygraphic EEG recordings. The polygraphic recordings and clinical correlations of the absence seizures were analysed. All patients presented with multi-quotidian, typical absence seizures. During the absences, the patients could show mild, rhythmic, myoclonic jerks involving facial areas (eyebrows, nostrils, perioral region, chin) or neck muscles (sternocleidomastoideus), with the same frequency as the spike-wave complexes. Polygraphic tracings demonstrated that the myoclonias were correlated to the spike component. Clinically, all patients showed a benign course, with complete seizure control under antiepileptic treatment. In the follow-up, 7 patients withdrew from treatment without relapse. We conclude that all our patients showed an electroclinical picture consistent with CAE. The occurrence of myoclonic manifestations of the face or neck associated with the absences did not influence the benign course of their disease. The electroclinical features observed in our group of patients differentiates our cases both from epilepsy with myoclonic absences and from absences with perioral myoclonia (with Video).

Child↗