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[Suture of skin lacerations using LAT gel (lidocaine, adrenaline, tetracaine)].

PURPOSE: Our aim is to assess the effectiveness and possible use od a new gel formulation for a LAT solution in minor lacerations repair and to propose its use for daily practice in surgical repair of skin lacerations near ocular structures like eyelids, eyebrows or forhead. METHOD: Fifty patients presenting skin lacerations of various origins and locations complying with inclusion criteria were topically anesthesized using LAT gel previous to suturing. Concentrations in final gel solution were as follows: Tetracaine 1.0%. Lidocaine 1.5% and Adrenaline 0.1%. Effectiveness of anaesthesia was assessed by means of various pain evaluation scales filled by patients and physician. RESULTS: Lidocaine infiltration was performed if any sign of pain was observed. 277 sutures were performed. Lidocaine infiltration was needed in five patients (10%) all of those evidencing lacerations in hands or fingers; no laceration in any facial area nor scalp needed any supplementary lidocaine infiltration. Of the total 254 sutures not needing infiltration, 19 (7.49%) elicited a painful response. 97% of all sutures placed in face and scalp elicited a less painful response and this difference was statistically significant against locations other than head. An average dose of 0.82 ml. of LAT was used in our study (consisting in 12.3 mg of Lidocaine, 8.2 mg of Tetracaine an 0.82 mg of Adrenalin). CONCLUSION: LAT gel is an effective alternative for the repair of wounds needing minor surgical procedures, it provides anaesthesia for lacerations in face and scalp of children and adults.

Adolescent↗

Coherence in localized visual evoked potentials (VEPs) to spatial stimulus attributes (orientation and displacement) in man.

The purpose of this study was to compare visual evoked potentials (VEPs) of striate-peristriate and Cz to posterior parietal, especially IPL's supramarginal (Su) and angular (Ang, Ano, and Ant) leads in response to human face spatial attributes attend-task, to assess the concern of the former with basic features versus the latter's spatial attributes "rotated" rightwards, leftwards, or oblique (unusual angle of sight) or nodal one (eye)- and two-item, eye/mouth displacement. Monopolar cranially derived VEPs were recorded bihemispherically from six adults using 12 electrode arrays 1.5 to 2 cm apart. Subjects were instructed to fixate a marking on the monitor at a nodal eyebrow region, while attending the stimulus that was computer displayed for 200 or 300 ms, and followed by mask. Analysis was made on the first 240 ms of the records after stimulus onset; the test was compared to "full face," the hypothesized control. Localized VEP changes were observed task-bound and bihemispherically coherent in parietal leads, especially Ang, Ano, and Su. The early negativity of the "full face" control was replaced by an early positive wave with onset latencies of 70 +/- 15 ms, significantly shorter (p < 0.01) than the striate's 90 +/- 20 ms. The changes were observed for both rotation and displacement. The changes in the angular leads (Ano and Ang) are consistent with the encoding of spatial attributes of orientation and nodal face items displacement. Differentiation of direction and degree of rotation, "seen from above" versus "seen from below," largely encoded by the right Su. The composite double-item eye and displaced or obliquely rotated induced extended coherent activity in parietal leads. Oz, peristriate, and Cz showed no such changes. No attempt is made to imply source localization; we claim parietal localized and coherency of the VEP changes suggest high-order early processing of human face attributes. This occurs by a relatively fast pathway. The "triggers" for the changes are direction and degree of rotation or of displacement rather than actual geometry of the stimulus.

Adult↗

Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese.

Tricho-rhino-phalangeal syndrome type I (TRPS-I) is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. Only one case of TRPS-I has been previously reported in Taiwan. This retrospective study analyzed the clinical, roentgenographic, and histopathologic findings in seven patients with a diagnosis of TRPS-I who were treated at a hospital in Tainan during a 6-year period from 1994 to 1999. Physical examination revealed fine, sparse, and short scalp hair, a pear-shaped nose, long philtrum, thinning of the lateral portion of the eyebrows, and brachydactyly of the thumbs and big toes. The stature and intelligence of these patients were normal. Histopathologic examination of the scalp in two patients showed hypotrichosis without inflammation or scarring. Roentgenographic evaluation of both hands and feet showed cone-shaped proximal epiphyses of the middle phalanges in all patients. The findings of this report suggest that TRPS-I is not rare among Taiwanese, although the island-wide incidence is not known. The diagnosis of this syndrome in our department was greatly facilitated by our prior experience with treatment of the first patient in this series because TRPS-I is readily recognizable by its characteristic clinical and roentgenographic features. The identification of these features is important to the facilitation of genetic and cosmetic counseling. In addition to the typical craniofacial manifestations, all patients in this study showed brachydactyly of the big toes. This additional feature appears to offer an easy way to recognize the syndrome clinically.

Adolescent↗

[Tapeto-retinal degeneration combined with incomplete general albinism (author's transl)].

UNLABELLED: Report on a family, which presented the rare autosomal dominant transmitted, incomplete general albinism associated with autosomal recessive inherited, diffuse tapeto-retinal degeneration "sine pigmento". SYMPTOMS: hypopigmentation of skin, eyebrows and hair, blue iris and fundus albinoticus with hypoplasia of the macula. In 3 cases additionally appeared: waxy pallor of optic disc, vascular narrowing, reflexless hypoplastic macula, pigmentless periphery, acquired blue-yellow blindness, concentric limitation of the visual field, reduced darkadaptation, abolished electroretinogram and myopic astigmatism.

Adolescent↗

Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

A new case of trisomy of the distal third of the long arm of chromosome 10 due to familial translocation t(10;18) (q24;p11) is described. The main clinical and radiological signs may be summarized as follows: growth at lower limits of normal; poor facial expression; round, flat face with high, broad forehead, fine, highly arched eyebrows, pseudohyperthelorism, microphthalmia, flat, broad bridged nose, hypoplasia of the bony structures of the central area of the face, "fish mouth", macroglossia, micrognathia; short neck; marked dextroconvex lumbar scoliosis; psychomotor delay of mild degree; selective, more pronounced speech delay. Our observation confirms the suggestion by Yunis and Sanchez that a clinical syndrome corresponds to this chromosomal alteration. However, some interesting differences from the previously reported cases, i.e., the absence of microcephaly and of severe impairment of growth and psychomotor development induce us to establish a more favorable prognosis in our case.

Abnormalities, Multiple↗

[Applied study on computerized quantitative facial nerve functional estimating system].

OBJECTIVE: To prove the clinical applied value of quantitative facial nerve functional estimating system (QFES) by comparing the estimating results of the computerized QFES with manual QFES. METHODS: 50 volunteers with normal facial nerve function were used. Every volunteer was taken 7 photos with digital camera, which including static, and forehead wrinkle, eyebrows knit tight, eyes closed tight, nose wrinkle, smile, pout and mouth open to maximal seven expressions. The facial nerve function was estimated by computerized QFES, and the estimating results were compared with manual estimations by QFES in our study during 1991-1994. RESULTS: All estimating indices in this study were in the range of 0.70-0.90 as well as the manual estimating results. However, the stand deviation in this study showed significantly smaller than the previous study. CONCLUSIONS: QFES is an ideal quantitative facial nerve functional estimating system, after computerization the efficiency is increased and the systemic error is decreased. It will benefit to apply computerized QFES in the facial nerve function estimating fields.

Diagnosis, Computer-Assisted↗

[Treatment of choroidal melanoma with X-ray knife].

OBJECTIVE: To detect and analyze the therapeutic effects of X-ray knife for treatment of choroidal melanoma with the fixation of the eyeball. METHODS: The average size of the tumors in 16 eyes of 16 cases was 11.8 mm x 10.0 mm x 4.5 mm. The eyeballs were fixed with four rectus retractable sutures under local anesthesia (no use of retrobulbar injection). The superior and inferior rectus sutures penetrated the upper and lower lids at the middle part of fornixes, and the four sutures were anchored at the positions: above the eyebrow, inferior orbital rim, root of nose and lateral orbital rim respectively and deep to the fascia. A stereotactic linear accelerator, Vrianc 2100 C, was used for the radiosurgery, with an average marginal dose 23.4 Gy. The mean follow-up time was 18.5 months. RESULTS: The tumors in 7 cases (43.8%) shrinked notably during 6 - 12 months after therapy. In the postoperative 1 - 2 years, the tumors in 11 eyes (68.8%) were decreased in size, among them, in 4 eyes only a flat scar remained and in 3 eyes the shrinkage was not significant. Enucleation was performed in 3 patients because of a little increase in size. The total local control rate was 81.3%. There were no marked side effects except small hemorrhages in or under the retina. Fixations of all eyeballs were very stable, and the orientation of radiotherapy was accurate. CONCLUSIONS: The therapeutic effects of choroidal melanoma with X-ray knife are quite good, and no significant complications are found. There is a higher rate of local control. The fixation of eyeball with four rectus sutures penetrating eyelids is very stable and reliable.

Adult↗

Familial partial trisomy of the long arm of chromosome 10 (q24-26).

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, +t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we propose that the trisomy 10q 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthalmia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 10q, are believed to be expressions of a partial monosomy of 17p.

Abnormalities, Multiple↗

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.

Abnormalities, Multiple↗

Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature.

We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XY,der(22)add(22)(p11) karyotype. Cytogenetic analysis of their mother and sister revealed a karyogram designated as 46,XX,t(9;22) (9pter-->9p12::22p11-->22qter). With the help of FISH technique, the derivative chromosome in the proband was further confirmed to be a translocation chromosome 22 carrying the aforementioned segments from chromosome 9 which originated from a segregation event of a mother's balanced translocation. Regarding clinical aspects of our cases, both showed similar findings of 9p trisomy syndrome but low frontal hairline, circular placement of the hair around the face and scarce, inverted eyebrows, findings not previously mentioned in the literature. We conclude that these new clinical findings could be used in the clinical diagnosis of the 9p trisomy syndrome along with the other well-documented symptoms.

Abnormalities, Multiple↗

[Ambras syndrome--a form of generalised congenital hypertrichosis].

The frequency incidence of generalised congenital hypertrichosis is about 1 to billion of people. There are only 4 reported cases of this atavism in Poland from Middle Ages. Authors describe 8-months-old infant covered (from birth) with dark, delicate hair. The length of the hair ranged from a few millimetres on the abdominal region to 5 cm on the back and extremities and 20 cm on head. Eyelids, sub orbital regions, ridge and tip of the nose, palms, feet, palmar and lateral surfaces of fingers and distal phalanxes were hairless. Especially long hair covered pre-temporal and pre-auricular regions, shoulders, spine and extremities. Eyebrows were dense and concrescent. Nasal alae and holes were covered with lanugo. Ears were covered with long and auditory canals with short hair. The face was characterised by hypertelorism, wide nose with horizontal nasal holes. Hormonal metabolism was normal. There was no sign of dentition. Skeletal age was 2 months and psychomotor development--3 months delayed. Upon the basis of above-mentioned features the Ambras syndrome, which occurred due to a mutation, was diagnosed. It is probably the tenth case described since Middle Ages.

Humans↗

[Griscelli syndrome in a Mexican girl].

Griscelli syndrome is an infrequent disease first described in 1978. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement and uncontrolled phases of macrophage and lymphocyte activation. We report the case of a female child who started with ataxic gait when she was 23 months old. At physical examination a phenotype with brown skin and silvery gray hair, eyebrows and eyelashes was observed. Neurological evolution was with remissions and exacerbations, with cerebellar and, finally, bulbar compromise.

Albinism↗

[A case of keratosis follicularis spinulosa decalvans (author's transl)].

The case of a 2-year-old boy with keratosis follicularis spinulosa decalvans is described. On of his sisters had keratosis follicularis of the upper arms, forearms, thighs and legs as well as blepharonconjunctivitis chronica catarrhalis bilateralis and was considered as forme fruste of the anomaly. His mother had sparse eyebrows. The mode of inheritance and the Lyon hypothesis are discussed.

Child, Preschool↗

Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report.

Autopsy reports of individuals with Shah-Waardenburg syndrome are rare, and to the best of our knowledge, have never been reported in association with Dandy-Walker malformation. This report documents the autopsy findings of a 2.5-year-old boy with Shah-Waardenburg syndrome (Type IV Waardenburg syndrome) and a Dandy-Walker malformation. The patient had a past medical history of congenital deafness, skin and hair pigmentary disturbances, Hirschsprun disease and hydrocephalus. At autopsy, multiple patches of dermal and hair hypopigmentation were observed over the face, trunk, eyelashes and eyebrows. The brain had a small, underdeveloped anterior cerebellar vermis, bilateral atrophic cerebelli, a markedly dilated ventricular system and a large incomplete midline cerebellar cyst. The entire colon and much of the small bowel had been previously excised secondary to the Hirschsprung disease. This case expands the spectrum of pathologic findings in Shah-Waardenburg syndrome to include the Dandy-Walker malformation.

Autopsy↗

Itraconazole (Sporanox®) for seborrheic dermatitis.

Seborrheic dermatitis is a common superficial dermatosis, characterized by red, flaking areas of the skin, which may in some cases be covered with yellowish flakes. The most commonly affected areas are the nasolabial folds, ears, eyebrows, scalp and chest. While seborrheic dermatitis may be easy to recognize clinically, the variability of the lesions in both appearance and location may complicate the diagnosis. Seborrheic dermatitis has been described as resembling psoriasis (in which case, the condition may be called "sebopsoriasis") and, when affecting the eyes or ears, has also been described as blepharitis and otitis, respectively. Seborrheic dermatitis tends to be chronic, though seasonal variation is common, with lesions worsening in the dry, winter months.

Antifungal Agents↗

Ankyloblepharon filiforme adnatum (AFA) associated with trisomy 18.

Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly which is characterized by single or multiple strands joining the upper and lower lids. Its etiology is unknown. A girl with a gestational age of 38 weeks is presented. It was interesting to find an association of AFA with hypoplasia of hair, eyelashes, eyebrows and nails and a karyotype of trisomy 18 in this case.

Abnormalities, Multiple↗

Changes of microvascular vasomotion and oxygen metabolism during cooling and rewarming period of cardiopulmonary bypass.

Microcirculation plays an important role in keeping a stable tissue metabolism during cardiopulmonary bypass (CPB). The relationship between microvascular vasomotion (MV) and total body's oxygen metabolism with temperature alteration during CPB remains unclear. Is there a relationship, or is the autoregulation a consequence of CO2, pressure and/or blood flow? The purpose of this study was to investigate the effect of temperature alteration on cutaneous MV and the total body's oxygen metabolism during CPB. Sixteen consecutive patients scheduled for elective cardiac valve replacement surgery were included in this study. The pump flow varied from 1.8-3.0 L/m(-2)min(-1) to maintain venous oxygen saturation above 65% and mean arterial blood pressure above 60 mmHg. At a nasopharyngeal temperature of 30 degrees C, oxygen consumption (VO2) and oxygen extraction (O2 ext) were measured during the cooling and rewarming periods. MV and skin microcircular flow (SMF) were monitored dynamically at the middle of two sides of the eyebrow with a laser Doppler flowmeter simultaneously VO2 and O2 ext at 30 degrees C were significantly lower during the cooling period (VO2, 49.9 +/- 17.7 mL/m(-2)/min(-1); O2 ext, 19.3 +/- 6.2%) than that during the rewarming period (VO2, 133.3 +/- 40.0 mL/m(-2)/min(-1); O2 ext, 35.2 +/- 9.2%) (p < .05). SMF was significantly depressed during CPB (p < .05). SMF during the cooling period (50.2% +/- 10.1%) was significantly less than that during the rewarming period (79.5% +/- 12.3%) (p < .05). MV was significantly less active during CPB than that before CPB (5.8 +/- 1.2 cyc/min) (p < .05), whereas there was no significant difference in MV between the cooling (3.7 +/- 1.8 cyc/min) and the rewarming period (4.1 +/- 1.5 cyc/min) and (p > .05). SMF and MV were depressed during hypothermic CPB, and there was some recovery during the rewarming period. Compared to baseline, SMF and MV were still significantly reduced during the warming period, indicating microvascular function was abnormal. Some measures should be taken for improvement of microvascular function during CPB.

Adult↗

Frequency of ocular complications of leprosy in institutionalized patients in NWFP Pakistan.

BACKGROUND: There is no systemic disease, which so frequently gives rise to disorders of the eye as leprosy does. The study was conducted to determine the prevalence and gravity of ocular complications in institutionalized leprosy patients in NWFP. It is important to provide necessary information to leprosy health workers and general physicians in order to sensitize them to early detection and treatment or referral to appropriate centre. METHODS: A prospective study of ocular complications of leprosy patients was conducted at the leprosy centre of Lady Reading Hospital Peshawar and the Leprosy Hospital Balakot, district Mansehra. The study included a record of the name, age, sex, type, duration of disease and completion of multi-drug therapy (MDT). Classification of the patients was done according to Ridley and Jopling 5-group system. Visual acuity was tested by Snellen chart and those patients having a vision of less than 3/60 were labelled as blind. Ocular adnexa were examined by naked eye and lacrimal sac regurgitation test was done. Slit lamp biomicroscopy was done for anterior segment examination and direct ophthalmoscope was used for fundoscopy. RESULTS: The authors studied 143 patients in the above mentioned leprosy centres. Out of these, 59 had lepromatous leprosy, 39 borderline tuberculoid leprosy, 9 tuberculoid leprosy, 33 borderline lepromatous leprosy, and 33 borderline leprosy. The majority of patients came from the northern districts of NWFP, including Malakand division and district Mansehra. The male to female ratio was 4:1. The age of the patients ranged from 14 to 80 years and the duration of the disease ranged from 1 year to 48 years. Ocular complications were found in 73% of the patients. These complications included loss of eyebrows in 57 patients, loss of eyelashes in 37, corneal changes (including opacity, ulceration, and/or anaesthesia) in 44, iridocyclitis in 31, lagophthalmos in 36, ectropion in 13, and chronic dacryocystitis in 3. Of the total of 15 (11%) patients who went blind from ocular complications, 16 eyes did so due to corneal opacities, 6 eyes due to cataract, 5 eyes due to chronic anterior uveitis and one eye due to corneal ulcer, panophthalmitis and phthisis bulbi each. CONCLUSIONS: A significant number of leprosy patients (73%) have ocular complications. The frequency of ocular complications increases with the increasing age and duration of disease of the patients.

Adolescent↗