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Breastfeeding twins and higher-order multiples.

The benefits of breastfeeding for pre-term and full-term infants are well documented. Breastfeeding facilitates maternal-infant attachment, provides optimal infant nutrition and immunologic protection, and minimizes economic impact. These benefits are multiplied with twins and higher-order multiples, who often are born at risk. Supporting a mother as she initiates and continues to breastfeed one infant requires specific knowledge and skills. Health professionals need additional knowledge and skills if they are to provide appropriate assessment, intervention, and support when a mother breastfeeds twins or higher-order multiples.

Breast Feeding↗

Congenital self-healing reticulohistiocytoma. A clinical, histological and ultrastructural study.

A 2 300 g male infant presented at birth with multiple, firm, bluish skin nodules, petechiae and thrombocytopenia. Physical examination was otherwise normal and no biochemical signs of organ dysfunction were found. A skin biopsy, done on the second day of life, was consistent with self-healing reticulohistiocytoma by light and electron microscopy. The nodules spontaneously resolved during the following months. At one year follow-up, he was without evidence of disease, the only sequelae being occasional discrete scarring. The major problem with this rare entity lies in its dramatic presentation and the chance of possible hazardous "overtreatment".

Humans↗

Co-bedding versus traditional bedding of multiple-gestation infants in the NICU.

This study was part of a large departmental performance improvement initiative to implement and evaluate developmental and family-centered care as "best practice" in the neonatal intensive care unit (NICU). The goal was to evaluate the safety, effect on infant clinical and developmental outcomes, and maternal satisfaction of co-bedding of multiple-gestation infants compared to traditionally bedded infants/mothers. A secondary purpose was to evaluate co-bedding and American Academy of Pediatrics-recommended "back to sleep" behaviors in the same infants/mothers after discharge. A retrospective, comparative, descriptive design was used. Chart reviews and mailed written surveys were used to collect study data. Findings showed no significant differences in demographic variables or clinical and developmental outcomes between the total traditionally bedded and co-bedded groups. All mothers reported positive experiences with the NICU. Co-bedding may promote maternal bonding and has no negative clinical or developmental outcomes. Once policies and education are in place, parents should be offered the option to co-bed multiple-gestation infants in the NICU. There is a performance improvement opportunity regarding the education provided to parents of multiple-gestation infants before discharge on the "back to sleep" recommendations.

Benchmarking↗

Breast feeding twins and high multiples.

Breast feeding offers major health advantages for all infants, whether born singleton or from multiple pregnancy. Adequate quantity and quality of milk production has been documented even for high multiples. Combined efforts of parents, close family, friends, and the medical team can help to make either full or partial breast feeding of multiples possible.

Breast Feeding↗

Oesophageal atresia in the South West of England.

A retrospective anatomical and family study was made of 345 patients with oesophageal atresia who were born in the South West of England between 1942 and 1973. There were 186 males and 159 females. Twenty-one cases were stillborn. Eighty-five percent of the patients had a combination of oesophageal atresia with a tracheo-oesophageal fistula to the distal oesophageal segment, and 9 percent had atresia without a fistula. Fifty-five per cent of the patients had other congenital malformations and these tended to be multiple rather than single. Thirty-six per cent of singletons had unequivocal fetal growth retardation, and there is some evidence that nearly all cases have poor fetal growth. There appeared to be a maternal age effect, with an excess of mothers under 20 and over 35, and there was an unexplained excess of fathers employed in the Armed Forces. Ten per cent of the cases were illegitimate. There were 21 twins which is nearly three times the expected number; there were two pairs of twins concordant for oesophageal atresia, one being monozygotic and the other dizygotic. In one case there were two sibs with oesophageal atresia. Five out of 365 sibs had anencephaly. The blood group distributions of the patients and their mothers did not significantly differ from the expected distribution. Oesophageal atresia is aetiologically heterogenous. In this series there were at least five, and probably 10 cases of trisomy 18 and four cases of trisomy 21. Five mothers had overt diabetes, and there is some suggestion from other work that maternal diabetes or its treatment may be aetiologically important. Oesophageal atresia was part of a possibly recessively inherited malformation syndrome in two cases. A sibship with a case of rectal atresia, a case of Hirschprung's disease and a case of oesophageal atresia may represent the action of another recessive gene. It seems likely that oesophageal atresia is a rather non-specific consequence of several teratological processes.

ABO Blood-Group System↗

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

BACKGROUND: CHARGE syndrome has an estimated prevalence of 1/10,000. Most cases are sporadic which led to hypotheses of a non-genetic aetiology. However, there was also evidence for a genetic cause with reports of multiplex families with presumed autosomal dominant, possible autosomal recessive inheritance and concordant twin pairs. We identified a monozygotic twin pair with CHARGE syndrome and a de novo balanced chromosome rearrangement t(8;13)(q11.2;q22). METHODS: Fluorescence in situ hybridisation was performed with BAC and PAC probes to characterise the translocation breakpoints. The breakpoint on chromosome 8 was further refined using 10 kb probes we designed and produced using sequence data for clone RP11 33I11, the Primer3 website, and a long range PCR kit. RESULTS: BAC and PAC probe hybridisation redefined the breakpoints to 8q12.2 and 13q31.1. Probe RP11 33I11 spanned the breakpoint on chromosome 8. Using our 10 kb probes we demonstrated that the chromodomain gene CHD7 was disrupted by the translocation between exons 3 and 8. DISCUSSION: Identifying that the translocation breakpoint in our patients occurred between exons 3 and 8 of CHD7 suggests that disruption of this gene is the cause of CHARGE syndrome in the twins and independently confirms the role of CHD7 in CHARGE syndrome.

Abnormalities, Multiple↗

Offspring risk and sibling risk for multilocus traits.

The recurrence risk of a trait in a relative of type R is the probability that an individual who is in relationship of type R to an affected proband has the trait. It is intuitively clear that closer relationships lead to higher recurrence risks. However, no exact analysis of this phenomenon has been presented for multilocus traits. We prove a theorem that shows how recurrence risks are influenced by the degree of closeness of the relationship R. For example, our theorem implies that sibling risk is always higher than offspring risk. The loci influencing the trait are assumed to be autosomal and unlinked, but arbitrary epistasis between the loci is allowed. We give a detailed proof of the theorem by using stochastic matrices. A shorter proof based on the additive and dominance genetic variances is also sketched. Additionally, we also give some empirical results and discuss generalizations of the theorem.

Chromosome Mapping↗

Metabolic profile of pre-pregnancy, pregnancy and early lactation in multiple lambing Sakiz ewes. 2. Changes in plasma progesterone, estradiol-17beta and cholesterol levels.

Twenty synchronized Sakiz ewes (aged 3-4 years) were used in this study. Blood samples were taken once in pre-pregnancy and at the 100th day of pregnancy. At the 120th day of pregnancy and the 10th day postpartum, blood samples were collected every 2 h for 24 h from 10 ewes. Plasma progesterone and estradiol-17beta levels were estimated by radioimmunoassay. Plasma cholesterol levels were determined by colorimetric method. Plasma progesterone levels increased during pregnancy and especially late pregnancy and decreased to basal values during lactation. Plasma estradiol-17beta and cholesterol levels were not significantly different between pre-pregnancy, pregnancy and early lactation periods. The insignificant rise in plasma cholesterol during pregnancy showed that pregnancy toxemia may not occur in multiple lambing ewes when fed a balanced diet sufficient in energy and protein levels. The increased plasma progesterone level above normal observed during pregnancy and especially late pregnancy may be interpreted as a feature of multiple lambing breeds.

Analysis of Variance↗

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.

We have studied a male patient with significant developmental delay, growth failure, hypotonia, girdle weakness, microcephaly, and multiple congenital anomalies including atrial (ASD) and ventricular (VSD) septal defects. Detailed cytogenetic and molecular analyses revealed three de novo X chromosome aberrations and a karyotype 46,Y,der(X)inv(X) (p11.4q11.2)inv(X)(q11.2q21.32 approximately q22.2)del(X)(q22.3q22.3) was determined. The three X chromosome aberrations in the patient include: a pericentric inversion (inv 1) that disrupted the Duchenne muscular dystrophy (DMD) gene, dystrophin, at Xp11.4; an Xq11.2q21.32 approximately q22.2 paracentric inversion (inv 2) putatively affecting no genes; and an interstitial deletion at Xq22.3 that results in functional nullisomy of several known genes, including a gene previously associated with X-linked nonsyndromic mental retardation, acyl-CoA synthetase long chain family member 4 (ACSL4). These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment.

Abnormalities, Multiple↗

Rapid evolution of a growing skull fracture after vacuum extraction in case of fetal hydrocephalus.

Vacuum extraction in nonprogressive labor is relatively safe. Only a few major complications have been mentioned. This article describes the rapid development of a growing skull fracture associated with a porencephalic cyst and parenchymal brain damage after a difficult vacuum extraction in a patient with congenital hydrocephalus and a thoracic meningomyelocele. The diagnostic and therapeutic management is discussed.

Abnormalities, Multiple↗

Acardiac acephalic monster extremely larger than its co-twin. A case report.

The acardiac monster represents a rare but one of the severest congenital anomalies which occur only in multiple pregnancy. The affected fetus is sustained by a parasitic anastomosis to the umbilical blood vessels of the normal fetus. We report an interesting case of a macrosomic acardiac acephalic fetus weighing 4.5-fold of another variable donor fetus (approximately 6 kg) in a twin pregnancy.

Abnormalities, Multiple↗

Lung cancer in men: a model for the relationship between age at diagnosis and smoking habits.

When studying a group of lung cancer cases in a limited period of time to determine the relationship between age at diagnosis and smoking habits, the multiplicity of birth cohorts and the small segment of the life-span distribution of cases observed are confounding and restraining conditions. A model was constructed that suggests that small observed age shifts represent large age shifts in the life-span distributions.

Age Factors↗

Childhood chest illness and the rate of decline of adult lung function between ages 35 and 45 years.

RATIONALE: There is an association between childhood chest illness and impairment of adult ventilatory function. It has not yet been established whether respiratory illness in childhood predisposes to chronic obstructive pulmonary disease by accelerating the decline in adult lung function. OBJECTIVES: To determine the effects of childhood chest illness and smoking on the rate of decline of adult ventilatory function from the age of 35 to 45 yr in a large, nationally representative sample of British adults. METHODS: Spirometry measurements were compared at 35 and 45 yr of age in 1,158 adults participating in the British 1958 Birth Cohort. Multiple regression analysis was used to measure the association between childhood chest illness and within-person change in spirometric volumes between age 35 and 45 yr, adjusting for potential confounding factors. MEASUREMENTS AND MAIN RESULTS: The mean reduction in FEV(1) between ages 35 and 45 yr was 35 ml/yr. Compared with subjects without the relevant respiratory history, the rate of decline was not significantly associated with pneumonia (mean difference, -0.2; 95% confidence interval, -6.1 to +5.8 ml/yr), whooping cough (0.7, -5.1 to +6.5 ml/yr), wheeze by age 7 yr (0.4, -5 to +5.9 ml/yr), or wheeze onset by age 8 to 16 yr (-3.4, -10.5 to +3.6 ml/yr). A similar pattern emerged for forced vital capacity. CONCLUSIONS: Childhood chest illness does not adversely affect the rate of decline of lung function in mid-adult life.

Adolescent↗

Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome.

Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. Vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 1(1/2) months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. Epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (e.g., Sturge-Weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures.

Blister↗