A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder.

OBJECTIVE: The skeletal remains of a short-statured individual (T17) are described and a differential diagnosis performed to determine the etiology of the condition. MATERIALS: An individual considered pathologically short in stature was discovered in the burial site of Piazza XX Settembre, Modena (northern Italy). METHODS: Morphological and morphometric analyses were performed, and T17 was compared to dwarfs from other localities and periods and to the adult female population from the same site. A paleopathological survey was undertaken to assess the degree of the skeletal elements of T17 were affected. RESULTS: T17 was a female, 20-30 years of age at death, with a stature of 128 cm and disproportionate dwarfism associated with congenital skeletal dysplasia. CONCLUSIONS: T17 likely affected by a form of hypochondroplasia. SIGNIFICANCE: Anatomical consequences of hypochondroplasia are presented, and the timeframe and associated burial goods suggest a 6th-century Lombard short stature belonging to one of the earliest Lombard settlements in Italy. SUGGESTIONS FOR FURTHER RESEARCH: Future genetic analysis would resolve if the mutation in the type 3 fibroblast growth factor receptor (FGFR3) is present in the remains of T17; however, it is not exclusivly linked to hypochondroplasia.

Assessment of overall thoracic limb axial alignment in dogs with antebrachial deformity.

OBJECTIVE: To assess overall thoracic limb axial alignment in dogs with and without angular limb deformity (ALD). STUDY DESIGN: Ex vivo and retrospective observational clinical study. ANIMALS: Forty canine thoracic limbs from bilateral normal specimens (10 pairs) and unilateral antebrachial ALD (10 uniapical and 10 biapical deformities). METHODS: Computed tomography images of the entire thoracic limb were collected for multiplanar reconstruction. Baseline limb axis was defined by the humeral anatomic axis. Axial alignment of the distal humerus, proximal and distal radius, and metacarpal bones were obtained and compared among levels and groups. RESULTS: The mean overall thoracic limb rotation of normal dogs was 35.4 ° (95% CI, 27.2 °, 43.6 °). Mean overall limb rotation in uniapical and biapical deformity was 41.6 ° (95% CI, 33.0 °, 50.1 °) and 54.4 ° (95% CI, 45.8 °, 62.9 °), respectively, but was not statistically different (P = .096). Only overall limb rotation in limbs with biapical ALD was different from normal limbs (P = .008). Rotation at the level of the elbow was 77% and 85% of overall limb rotation in normal and deformity limbs, respectively, and was increased from normal in limbs with ALD (both P < .05). Radial torsion did not differ among groups but was moderately correlated with overall limb rotation. CONCLUSION: Rotation arising in the elbow of limbs with ALD was higher than in normal limbs and accounted for the greatest contribution of overall limb rotation. CLINICAL SIGNIFICANCE: Assessment of radial torsion alone is insufficient to understand overall limb axial alignment in dogs with antebrachial bone deformity.

Assessment of surgical antimicrobial prophylaxis in Orthopaedics and Traumatology Surgical Unit of a Tertiary Care Teaching Hospital in Addis Ababa.

BACKGROUND: Prophylactic antimicrobials have a starring role in prevention of surgical site infection. This study assesses the practice of surgical antimicrobial prophylaxis (SAP) and development of surgical site infection (SSI) based on patient chart review in patients who underwent surgery in the Orthopaedics and Traumatology Surgical Unit of Tikur Anbesa Specialized Hospital (TASH). RESULTS: Majority of the patients 144 (72%) were males. 108 (54%) of the surgical wounds were clean and 63 (31%) were clean contaminated. 160 (80%) patients received preoperative prophylaxis, of these 153 (96%) received postoperative prophylaxis as well. 34 (17%) patients did not receive preoperative antimicrobial prophylaxis, while 6 (3%) patients had no record about preoperative antimicrobial prophylaxis. Among those who received preoperative antimicrobial prophylaxis the time of administration was not recorded in 87 (54%) of the patient charts and 36 (23%) patients had preoperative antimicrobial prophylaxis greater than 2 h prior to incision. Among the 188 (94%) patients that received postoperative antimicrobial prophylaxis; the duration of administration was more than 72 h in 114 (61%) patients, while only 8 (4%) received for less than 24 h after surgery. Ceftriaxone 309 (70%) was the most prescribed agent for prophylaxis. 32 (16%) patients developed surgical site of infection. Using odds ratio age equal to or above 50, clean contaminated and contaminated surgical wounds were not statistically associated with increased risk of SSI. CONCLUSION: Most patients who underwent surgery received prophylactic antimicrobials; nevertheless, the practice was not aligned with standard guidelines' recommendations and patients developed surgical site infections.

Low vertebral ano-rectal cardiac tracheo-esophageal renal limb screening rates in children with anorectal malformations.

BACKGROUND: The aim of this study was to establish the rate of screening for associated cardiac, vertebral, spinal cord, urologic, and limb anomalies vertebral ano-rectal cardiac tracheo-esophageal renal limb (VACTERL) in children with anorectal malformation (ARM). METHODS: We performed a retrospective cohort study using the Medicaid Analytic eXtract database which contains enrollment and utilization claims and demographic information from all Medicaid enrollees. Patients born between January 2005 and December 2008 with International Classification of Diseases, Ninth Revision codes for a diagnosis of ARM within 30 days of life, an ARM procedure code during the first year of life, and a minimum of 12 months of continuous enrollment were included. VACTERL screening was determined using International Classification of Diseases, Ninth Revision and Current Procedural Terminology codes for diagnostic tests used to detect these anomalies. RESULTS: A total of 406 patients were identified (231 males). Evaluation of the spinal vertebrae was performed in 94% of patients (381 of 406). Spinal cord evaluation was performed in 57% (231 of 406): 52% (121 of 231) received spinal ultrasound (US), 24% (56 of 231) received spinal magnetic resonance imaging, and 23% (54 of 231) received both. Sacral radiographs were performed in 8% (32 of 406) and 77% (313 of 406) underwent an echocardiogram. Genitourinary evaluation was performed in 84% (341 of 406): 67% (229 of 341) received renal US, 8% (27 of 341) received abdominal US, and 25% (85 of 341) received both. Limb evaluation was recorded in 19% (76 of 406). Multiple screening including an echocardiogram, spinal radiograph, spinal cord evaluation, and renal evaluation was performed in 45% (181 of 406); 2% (7 of 406) did not receive any screening tests. CONCLUSIONS: Low VACTERL screening in children with ARM suggests that associated anomalies may be undiagnosed which may lead to increased long-term morbidity.

Adults with congenital limb deficiency in Norway: demographic and clinical features, pain and the use of health care and welfare services. A cross-sectional study.

PURPOSE: To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4) use of health care and welfare services. METHODS: Cross-sectional study. In 2012, a postal questionnaire was sent to 186 eligible persons with CLD, age 20 years and older. RESULTS: Ninety-seven respondents, median-age 39 years (range: 20-82); 71% were women. The population was divided into two subgroups: (1) unilateral upper-limb deficiency (UULD) n = 77, (2) multiple and/or lower-limb deficiency (MLD/LLD). About 40% worked full-time, 18% received disability pensions and 64% reported chronic pain, mostly bilateral pain. Grip-improving devices were used more often than prostheses; 23% were previous prosthesis users. Use of health care and welfare services are described. No significant differences were found between the subgroups regarding pain or employment status. CONCLUSIONS: Persons with CLD reported increased prevalence of chronic pain, mostly bilateral, and increased prevalence of early retirement. A greater focus on the benefits of the use of assistive devices, the consequences of overuse and vocational guidance may moderate pain and prevent early retirement. Further studies of more representative samples should be conducted to confirm our findings. IMPLICATIONS FOR REHABILITATION: Most adults with congenital limb deficiency (CLD) live ordinary lives and experience normal life events. However, several report chronic pain and retire before normal retirement age. In spite of free and accessible prosthetic services, a large fraction chooses not to use prosthesis, more use grip-improving devices for specific activities. These preferences should be acknowledged by rehabilitation specialists. Focus on individually adapted environments, more information about the consequences of overuse, and vocational guidance may moderate pain and prevent early retirement.

Life situation of adults with congenital limb reduction deficiency in Sweden.

PURPOSE: To describe the current life situation of adults with congenital limb reduction deficiencies (CLRD), living in Sweden, regarding their main daily occupation, leisure activities and self-reported general health. METHODS: A cross-sectional survey was conducted using a study-specific questionnaire, sent by post. Hundred and seventeen persons with different extent, forms and levels of CLRD (mean age 33 years) responded to the questionnaire. RESULTS: Work or study was the main occupation for 86% of the participants and 50% had completed a college or university education. About 7% were unemployed and 3% were on sick leave. The participants were highly involved in social and physical activities during leisure time. The majority reported good or very good general health. CONCLUSION: This study is the first investigation of the life situation of adults with CLRD described with a perspective from Swedish society. The participants were educated and worked to a great extent, which corresponds well to the Swedish population as a whole. Further research is needed, especially with a focus on the internal perspective of life situation, different aspects of work capacity, occurences of strain injuries and the benefit of assistive devices among adults with CLRD. Implications for Rehabilitation People with CLRD require a health care system with a multi-professional rehabilitation team offering regular contact during their life time. Educational system offering study counselling on all education levels (from primary school to university) is an important type of support for people with any kind of deficiency, in order to find suitable education and profession. Work is of importance for an acceptable life situation. Rehabilitation for people with CLRD should emphasise facilitating their ability to work, through engagement in individual personal capacity and self-efficacy. The majority of people with CLRD are users of prostheses and assistive devices. The benefits of the devices are basic but the rehabilitation should also include aspects of usability and use worthiness for individuals in performing their daily activities.

Racing and sales performance after unilateral or bilateral single transphyseal screw insertion for varus angular limb deformities of the carpus in 53 thoroughbreds.

OBJECTIVE: To evaluate the racing and sales performance of Thoroughbred horses with varus angular limb deformities of the carpus treated by unilateral or bilateral single transphyseal screw (STS) placement. STUDY DESIGN: Case series. ANIMALS: Thoroughbred horses (n=53). METHODS: Medical records (January 1, 2005-December 31, 2006) of yearling Thoroughbreds treated for carpal angular limb deformity by transphyseal screw insertion in the distal aspect of the radius were reviewed. Retrieved data were sex, surgery, and screw removal dates, surgical site, appearance, limb(s) affected, type of angular limb deformity, and degree of angular deviation measured by a goniometer. Racing and sales data were collected for analysis from an online racing site for all treated horses and their maternal siblings. RESULTS: No significant differences were identified between treated horses and their maternal siblings in yearling sale price, 2-year-olds in training sale price, percent starters, percent winners, and starts, earnings, and earnings/start made during the 2- and 3-year old years. CONCLUSIONS: No deleterious effects on sales or racing performance were identified after use of STS in the distal aspect of the radius of Thoroughbreds for the treatment of varus angular limb deformities of the carpus.

Effects of paediatric limb loss on healthcare utilisation, schooling and parental labour supply.

PURPOSE: To explore the impact of childhood limb loss on families in terms of healthcare utilisation, schooling and parental labour supply. METHODS: Data were obtained from a cross-sectional, retrospective pilot survey of 123 parents or caregivers of children with limb loss selected randomly after stratification by aetiology (i.e. trauma, malignancy and congenital limb deficiency) from among eligible families identified by the Amputee Coalition of America. Healthcare utilisation, school (child) and labour market (parents) participation were examined. RESULTS: Children with limb loss use health services frequently and miss school for limb loss-related concerns. Over half of all parents adjusted their work participation in response to their child's limb loss. The use of prostheses may increase direct and indirect costs of limb loss. Children with acquired limb loss (amputation following trauma or cancer) were more likely than those with a congenital limb deficiency to use a prosthesis. CONCLUSIONS: Our data suggest that the impact of limb loss on families of affected children may include substantial costs, particularly when school and work effects are taken into account. Further research is needed to identify the full household- and societal-level costs of childhood limb loss and suggest interventions to reduce the burden experienced by families.

Sampling survey of disability in 0-6 year-old children in China.

OBJECTIVE: To investigate the current status of disabled children and prevalence of disabilities in children aged 0-6 years and their risk factors, and to provide scientific evidence for making relevant policies for disabled children. METHODS: In a community-based cross-sectional study, multi-phase, stratified, unequal proportional and cluster sampling was adopted to survey 60 124 children aged 0-6 years. All the investigated children were screened for disabilities, and those with positive screening tests were further diagnosed by various specialties. RESULTS: A total of 819 children were diagnosed as disabled with an overall prevalence of 1.362%, 0.155% for hearing disability, 0.160% for visual disability, 0.931% for intelligent disability, 0.424% for limb disability, and 0.101% for mental disability. Prevalence of disability in children was higher in rural areas, and in families with two or more children, low educational level or in divorced families. CONCLUSION: The prevalence of disability can be reduced by economic development, improvement of health care and quality of population, as well as harmonious familial relationship, early prevention of disability, and preschool education for disabled children.

The use of the 'reverse Cornfield inequality' to assess the sensitivity of a non-significant association to an omitted variable.

Unlike randomized experimental studies, investigators do not have control over the treatment assignment in observational studies. Hence, the treated and control (non-treated) groups may have widely different distributions of unobserved covariates. Thus, if observational data are analysed as if they had arisen from a controlled study, the analyses are subject to potential bias. Sensitivity analysis is a technique for assessing whether the inference drawn from a study could be altered by a moderate 'imbalance', between the distribution of the covariates in different groups. In this paper, we examine the sensitivity analysis of the test of proportions in 2 x 2 tables from a new perspective: 'could a non-significant result have occurred because the treated group has a higher prevalence of an unobserved risk factor?'. The study was motivated by an analysis of the studies concerning with the possible effect of spermicide use on birth defects that were cited in a legal decision.

Interpretation of radiographs in a pediatric limb deformity practice: do radiologists contribute?

Orthopaedic surgeons make treatment decisions based on their interpretation of patient radiographs. Radiologists' reports of these radiographs are routine but may add little to the patient's management. The authors prospectively compared data initially recorded by a pediatric orthopaedist in the assessment of teleoroentgenograms obtained over a 3-month period in a limb deformity clinic with the subsequent reports of these studies by pediatric radiologists. Two hundred and sixty-four (100%) anatomic axes of femora and tibiae were measured and reported by the surgeon compared to 1.9% by the radiologist. Limb lengths were recorded 100% of the time by the orthopaedist and by the radiologist in 80% of cases. Abnormal bone quality was present in 43 of 264 (16.2%) limb segments and reported in all involved cases by the orthopaedist. Only 26 (9.8%) of the abnormalities were noted by the radiologist. Only eight of 20 (35%) physeal abnormalities such as rickets were noted by the radiologist in contrast to 20 of 20 (100%) noted by the surgeon. There were no findings described by the radiologist not previously reported by the orthopaedic surgeon. In no case did the radiology interpretation influence clinical management decisions.

Progestational drug products for human use; requirements for labeling directed to the patient. Food and Drug Administration, HHS. Final rule.

The Food and Drug Administration (FDA) is revoking its regulation requiring patient labeling for progestational drug products. Patient labeling had been required to inform patients of an increased risk of birth defects reported to be associated with the use of these drugs during the first 4 months of pregnancy. FDA concluded that, based on a review of the scientific data, such labeling for all progestogens is not warranted. In addition, the diversity of drugs that can be described as progestational and the diversity of conditions these drugs may be used to treat make it inappropriate to consider these drugs a single class for labeling purposes. This action is intended to provide consumers with more appropriate labeling for certain drug products.

Racing performance after hemicircumferential periosteal transection for angular limb deformities in thoroughbreds: 199 cases (1987-1989).

Racing records of 199 Thoroughbred foals with angular limb deformities surgically treated by hemicircumferential periosteal transection and elevation (HCPT) from 1987 through 1989 (principals) were compared with records of their 1,017 siblings (controls) for starting status; 2-, 3-, and 4-year-old starts; earnings and earnings per start; and starts percentile ranking number (SPR). Principals had a slightly lower percentage of horses starting a race (45 vs 55%), fewer 2-year-old starts (1.06 vs 1.72), and lower SPR (33.49 vs 49.18), compared with those of controls (P < 0.05). Starting status was significantly (P < 0.05) affected by surgery and the horse's sex, but not by anatomic site treated. Fillies were 1.74 times less likely to start than were colts, regardless of surgery, whereas principal fillies were 2.63 times less likely to start than were control colts. Difference was not detected between principals and controls in 3- or 4-year-old starts; 2-, 3-, or 4-year-old earnings, or earnings per start. Horses treated with distal metacarpal/metatarsal HCPT had fewer 2-year-old starts (1.09 vs 2.19), but did not have a significantly different SPR or lower starting percentage, compared with values for controls. Horses treated with distal radial HCPT had lower starting percentage (48 vs 55%), fewer 2-year-old starts (1.22 vs 1.70), and lower SPR (32.53 vs 53.32), compared with those of controls.(ABSTRACT TRUNCATED AT 250 WORDS)

Mouse limb bud development in submerged culture: quantitative assessment of the effects of in vivo exposure to retinoic acid.

Retinoic acid, suspended in cottonseed oil, was administered via gavage to pregnant mice (ICR strain) on day 11 (E 11) of gestation at doses of either 20, 40, or 80 mg/kg. Fetuses were examined for external malformations on day 17 (E 17). Retinoic acid treatment induced micromelia (with the elimination of several long bones at higher doses) and digital defects (ectrodactyly and syndactyly) in a dose-dependent manner in fetuses examined on day 17. Hindlimbs were affected more than forelimbs. In another group of experiments, limbs exposed to retinoic acid treatment in utero on E 11 were cultured on E 12 and maintained for 3 days in submerged culture. Cultured limbs were examined qualitatively for digital and long bone defects, and image analysis of the area and form of bone anlagen of cultured limbs was used to quantitatively evaluate the teratogenic potential of retinoic acid. The qualitative evaluation indicated that the retinoic acid-induced effects obtained in vivo and with pretreated, cultured limbs were essentially the same, except that the severity of regional effects changed as a result of culture. The incidence of ectrodactyly was higher with cultured limbs than with E 17 fetal limbs, but fewer cultured limbs were missing long bones. These results suggest that culturing limbs, after they have been pretreated in utero, modifies their response to a teratogen and demonstrates that the paw skeleton is extremely sensitive to teratogen treatment under these experimental conditions. Therefore, care must be exercised when attempting to compare in vivo and in vitro teratogenic data. This study also clearly demonstrates the power and usefulness of image analysis for quantitative evaluation of both the area and form of a cultured specimen such as the developing limb bud. Quantitative, image analysis of cultured limbs showed a dose-dependent decrease in area of both fore- and hindlimbs. The effect was most severe in hindlimbs. In the forelimb, the paw was affected more than the long bones; as the dose increased, this disparity of effect also increased. With the hindlimb, a greater effect on the paw occurred only at 80 mg/kg. Computing the soft tissue/bone ratio illustrated that retinoic acid had a greater effect on chondrogenic tissue than on soft tissue.

Diagnosis and assessment of fetal malformation and abnormalities by ultrasound.

With remarkable improvements in antenatal, intrapartum and the newborn care, the proportion of perinatal problems attributable to congenital abnormalities has significantly increased. The number of deaths due to fetal malformations in some countries now approaches the number due to prematurity and it is justifiable to believe that abnormalities will soon be heading the league of causes of perinatal death. Even with the most advanced treatment teams and resources, many seriously malformed children cannot be habilitated to any reasonable degree. It is therefore obvious that the future of these types of disorders lies ultimately in their prevention. This has long been the hope of obstetricians and in certain abnormalities this can become a reality. With the advent of ultrasound, many structural anomalies cannot be evaluated by direct visualization of the placenta and fetal anatomy. The number of pregnancies monitored available and as public education about genetics increases. Diagnostic ultrasound has proved to be a powerful means of preventing the birth of babies with significant defects. If this has not been achieved in early pregnancy, the knowledge that the fetus is or may be abnormal at the end of pregnancy can still be valuable, since the management of patients before and during labour could be radically altered. Therefore, ultrasound examination should be preferred as the initial test because it is without risk and produces no side effects.

Children with a handicap and their families.

The mothers' perceptions of the emotional and social stresses experienced by families who have children suffering from spina bifida, cerebral palsy or a limb deficiency, and the mothers' suggestions for easing situations that were causing them concern are recorded in this study. One hundred and sixteen mothers were interviewed. The children were between the ages of five and ten years at the time of the interview and were patients at the Royal Children's Hospital, Melbourne. The study investigates the problems of attending a public hospital and draws attention to the difficulties in communication between the hospital staff and parents. It emphasizes the physical demands made on the parents, particularly the mothers, in caring for a handicapped child and indicates the lack of supporting services in the home, such as home help and child minding services. The effect on the parental relationship and on brothers and sisters is studied and attention is drawn to the need for ongoing social work support to the parents, and that brothers and sisters should be included in the counselling services. Some of the difficulties encountered by the child with a handicap are recorded, in particular the problems of socialization and leisure time occupation. The parents' difficulties in rearing a handicapped child are discussed including their problem in talking to the child about his handicap. The mothers' comments about community attitudes to their child, and ways of alleviating these are also mentioned.

Long-term assessment of children exposed in utero to carbimazole.

Twenty-five children aged 3 to 13 years who had been exposed in utero to carbimazole were assessed physically and psychologically to evaluate the long-term effects of the drug on growth and development. 2 children had congenital malformations but all had normal pituitary-thyroid function and appeared to have grown and developed normally.