Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period by tandem mass spectrometry, carrier frequencies, clinical manifestations, and effect of treatment of CTD and HLCSD. We found 11 patients with CTD from five families and 8 patients with HLCSD from five families. The natural history of both disorders varied extensively among patients, ranging from patients who presumably had died from their disease to asymptomatic individuals. All symptomatic patients responded favourably to supplementation with L: -carnitine (in case of CTD) or biotin (in case of HLCSD), but only if treated early. Estimates of carrier frequency of about 1:20 for both disorders indicate that some enzyme-deficient individuals remain undiagnosed. Prospective and retrospective tandem mass spectrometry (MS/MS) analyses of carnitines from neonatally obtained filter-paper dried blood-spot samples (DBSS) uncovered 8 of 10 individuals with CTD when using both C(0) and C(2) as markers (current algorithm) and 10 of 10 when using only C(0) as marker. MS/MS analysis uncovered 5 of 6 patient with HLCSD. This is the first study to report successful neonatal MS/MS analysis for the diagnosis of HLCSD. We conclude that CTD and HLCSD are relatively frequent in The Faroe Islands and are associated with variable clinical manifestations, and that diagnosis by neonatal screening followed by early therapy will secure a good outcome.

Perinatal deaths in the Faroe Islands during 1986-95.

OBJECTIVE: To examine causes of perinatal mortality in the Faroe Islands, where it has been increased compared to other Nordic societies. METHOD: Cases were classified according to a fetal/obstetric, a fetal/neonatal, and a fetal/obstetric/neonatal classification (classifications C1, C2, and C3, respectively). SETTING: The Faroe Islands 1986-1995; as reference materials were used a) the preceding decade in the Faroes and b) a parallel period in Denmark. SUBJECTS: We examined all available information regarding each case from hospital records, midwife records, birth certificates, death certificates and autopsy records. RESULTS: The perinatal mortality was 10.3 per 1,000 total births (83/8,096) compared with 13.7 (102/7,458) in the preceding decade; the fall could be attributed to fewer cases with preeclampsia, antepartum bleedings (C1) and antepartum asphyxia (C2) and the number fell despite an increased occurrence of cases attributed to congenital malformations. Perinatal mortality in Denmark was 8.3 (4,574/550,971), where rates were lower of cases with congenital malformations and fetoplacental dysfunction, but where the rate was higher of cases related to preterm birth (C3). CONCLUSIONS: Although the perinatal mortality rate still is higher in the Faroes than Denmark, the rate had fallen in the Faroes from 1976-85 to 1986-1995. The fall was mainly due to fewer cases attributable to antepartum asphyxia, preeclampsia, antepartum bleedings, and hyaline membrane disease, a pattern compatible with a more efficient perinatal service in the Faroes in the latter period.

[Benign congenital hypotonia]. / Benign kongenit hypotoni.

This study was conducted in order to elucidate the rarely mentioned diagnosis of benign congenital hypotonia (BCH), introduced by Walton in 1956. A clinical follow-up examination was made of 10 patients who 6-18 months earlier were diagnosed as having BCH. In two cases the initial diagnosis proved to be incorrect since a specific origin was found for the hypotonia (Dubowitz myopathy and coeliac disease). In the remaining eight cases the muscular tones was either completely normalized (two children) or considerably improved. It is conducted that BCH is a clinical diagnosis with a good prognosis. If a hypotonic child meets the criteria of BCH as described by Shuper in 1981, a safe strategy would be to refer for physiotherapy and follow the child to make sure that the hypotonia decreases as expected. If it has not disappeared at age three to four years, further investigations should be made. Finally, it should be emphasized that even though the hypotonia always decreases, it will not always disappear completely.

[Congenital malformations of urinary tract and gastrointestinal canal. Incidence of diagnosed cases at 2 years of age compared with prenatal registration]. / Medfødte misdannelser i urinveje og gastrointestinalkanal. Incidensen af diagnosticerede tilfoelde i toårsalderen sammenholdt med proenatal registrering.

The aim of this study was to determine the incidence of diagnosed congenital malformations of the kidneys, urinary and gastrointestinal tracts at two years of age in an unselected population of 8952 children born in three Danish counties in 1991. Further, to review how frequently these conditions were detected by obstetric ultrasound examination since no systematic screening for malformations was performed in 1991 in this area. Twenty-three children were found with congenital malformations of the kidneys or urinary tract which gives an incidence of 0.26%. Although 16 of the mothers had been examined with ultrasound during pregnancy, the malformation was only diagnosed or suspected in three of the 23 children. Fourteen children had gastrointestinal malformations, eight were scanned prenatally and only one (diaphragmatic hernia) was diagnosed prenatally. Thus malformations in kidneys, urinary tract or gastrointestinal tract were rarely diagnosed prenatally by ultrasound although 70% of the mothers were scanned at least once during pregnancy.

Infusion of vecuronium assessed by tactile evaluation of evoked thumb twitch.

In 15 patients (ASA I-II) undergoing intraabdominal gynaecological surgery, muscle paralysis for tracheal intubation and surgery was achieved by a combined bolus and demand infusion of vecuronium. The initial loading dose of 67 micrograms kg-1 and the rate of subsequent infusion were determined by evaluation of the tactile twitch response to train-of-four (TOF) stimulation of the ulnar nerve while the neuromuscular blockade obtained was recorded blindly for control on the contralateral arm. A maintenance dose of 4.9 mg h-1 (2.0-7.6 mg h-1) produced a smooth course of blockade with minimum and maximum values of twitch height during infusion of 2% and 12%, respectively. A period of 15.9 min elapsed from the end of infusion to a TOF-ratio of 0.7, when neostigmine 2.5 mg was administered at the point of two palpable twitches to TOF-stimulation. Simple tactile evaluation of peripheral nerve stimulation is sufficient to determine the infusion rate of vecuronium required to produce stable and appropriate neuromuscular blockade during intra-abdominal surgery.

Respiratory depression following postoperative analgesia with epidural morphine.

Eighteen healthy patients subjected to operation for duodenal ulcer were allocated randomly to one of two regimes of analgesic treatment with epidural morphine. The analgesic regime was started either per- or postoperatively. Epidural morphine in doses of 4 mg was given until satisfactory pain relief was achieved. PaCO2 and respiratory rate were measured hourly for 10 h and a nearly identical respiratory depression was found in the two groups. Peak PaCO2-values were seen in the 5th and 6th postoperative hour. The respiratory rate was initially high and declined during the first postoperative hours. Only one patient in each group had a pathologically low respiratory rate (8 min-1), but this was transient and seen in the 10th postoperative hour. The needs for epidural morphine on the first postoperative day were highest in the peroperative group. It is concluded that a peroperative start of pain treatment with epidural morphine does not affect the degree of respiratory depression or reduce the postoperative analgesic requirements.