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Biomedical subjects

A Guala

Publications and source records attributed to A Guala.

At least 19 recordsLinked to original sources
PubMed2001

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

We report on a patient with clinical manifestations consistent with a diagnosis of congenital onychodysplasia of the index fingers (COIF). This syndrome has been found mainly in Japan, and as far as we know, this is the first case reported in Italy. In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. The metacarpophalangeal profile showed a generalized brachydactyly with all the hand long bones below x3 SD. The patient's father showed a peculiar kind of micronychia on both the fifth toes, suggesting a possible autosomal dominant transmission of the syndrome. In utero ischemia of the palmar digital artery and a dysplastic change in the crescent-shaped cap of the distal phalanx are the two main candidate pathogenetic mechanisms that have been proposed. In our opinion, the gradual broadening of the spectrum of this syndrome brings support to the hypothesis of a basal dysplastic pathogenetic mechanism involving not only the index fingers but also perhaps other tissues outside. We think that for the moment the definition of COIF for this syndrome should be maintained, the alternative proposed term "congenital onychodysplasia" being too indefinite.

Abnormalities, Multiple↗
PubMed2001

Glucose or sucrose as an analgesic for newborns: a randomised controlled blind trial.

BACKGROUND: To evaluate the effect of different oral glucose or sucrose solutions on the pain response to heelstick in newborns. METHODS DESIGN: randomised double blind placebo controlled trial of water (control) versus one of three solutions of glucose - namely 5, 33 and 50% - or one of two solutions of sucrose (33% and 50%) or nothing. SETTING: postnatal ward. PATIENTS: seven groups of 20 healthy newborns (gestational age 38-41, weighing over 2500 g) were randomised to receive 2 ml of one of the six solutions on the tongue inmediately before heelstick procedure. MAIN OUTCOME MEASURE: heart rate before, during and three minutes after the procedure. RESULTS: Even if the trend of the cardiac rates did not reach statistic significance, glucose solution 33 and 50% proved to be the most effective in reducing pain response. CONCLUSIONS: Sweet solutions may be an easy, useful, safe and cheap analgesic for minor invasive procedures in newborns.

Analgesia↗
PubMed2000

Arterial tortuosity syndrome.

We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.

Abnormalities, Multiple↗
PubMed2000

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Abnormalities, Multiple↗
PubMed2000

Radioulnar synostosis and XYY syndrome.

Radioulnar synostosis in a boy with XYY syndrome is discussed. Only four other cases of radioulnar synostosis with XYY syndrome have been reported in the literature.

Child, Preschool↗
PubMed2000

[Hemiplegic migraine. A series of 5 patients].

We describe the occurrence of five pediatric patients presenting an aura encompassing neurovegetative and unilateral neurological manifestations persisting during and after the migrainous attack are described. All investigations were normal and the symptoms completely disappeared within 24-48 hours with non specific treatment. A diagnosis of hemiplegic migraine was made. The importance is underlined for the pediatrician to consider migraine in the differential diagnosis of a child first presenting with neurological symptoms even without symptoms of migraine.

Acetaminophen↗
PubMed2000

[Familial variability in the clinical expression of hand-foot-mouth disease].

Aim of the paper is to describe the variability of clinical symptoms in hand, foot and mouth disease, especially among patients belonging to the same family. In spring 1999, during an epidemic of hand, foot and mouth disease, nineteen cases were observed by the authors. In eight cases also some members of the family were affected. A great variability in the clinical expression of the disease, above all among the members of the same family were observed. No cases in children below twelve months or in elderly members of the family were found. Children below three years had more stressed general symptoms, but in no case hospitalization was necessary. Hand, foot and mouth disease does not always show vesicles and aphthae in the affected areas. Clinical expression can also be lacking, but in this case diagnosis can be made easy by the presence of an epidemic or of other cases in the same family.

Child, Preschool↗
PubMed2000

[Rubella vaccination in the post-partum: which is the best approach?].

BACKGROUND: Two different post partum Rubella vaccination's programs for seronegative women in puerperium are compared. METHODS: In the Borgosesia hospital (Piedmont Region) the vaccination has been proposed by gynecologists already during pregnancy to all the pregnants proved to be negative at the Rubella's test in the initial pregnancy. The little number of enlisted patients is the consequence of the availability of only one doctor to take part in the vaccination's program. In this hospital the cost of vaccination was paid by the patient that had to buy the vaccine before hospitalization. In the Vigevano's hospital (Lombardia Region) the rubella's vaccination has been instead proposed by the nursery pediatrist to all the women who has just given birth in the period between 1995-1997, seronegative for rubella's test in pregnancy or in puerperium. RESULTS: The results (88% of the seronegative women vaccinated in Borgosesia versus 72.6% in Vigevano) show that the best way is to make the pregnant women aware by the gynecologist during pregnancy, even though the vaccine wasn't free for the patients. CONCLUSIONS: The action of pediatrists combined with the availability from hospital administration to offer a free vaccine will make possible to reach an almost total success of the Rubella vaccination's program.

Female↗
PubMed1999

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition.

Adolescent↗