Methodology to geometrically age human body models to average and subject-specific anthropometrics, demonstrated using a small stature female model assessed in a side impact.

The aged population has been associated with an increased risk of injury in car-crash, creating a critical need for improved assessment of safety systems. Finite element human body models (HBMs) have been proposed, but require representative geometry of the aged population and high mesh quality. A new hybrid Morphing-CAD methodology was applied to a 26-year-old (YO) 5th percentile female model to create average 75YO and subject-specific 86YO HBMs. The method achieved accurate morphing targets while retaining high mesh quality. The three HBMs were integrated into a side sled impact test demonstrating similar kinematic response but differing rib fracture patterns.

Associated anomalies in cases with achondroplasia.

Associated congenital anomalies may be observed in cases with achondroplasia. The prevalence reported in the literature and the types of co-occurring congenital anomalies are variable between the reported studies. The aim of this study was to establish the prevalence and to describe the associated anomalies in cases with achondroplasia. This study included 25 cases ascertained from our registry of congenital anomalies including all terminations of pregnancy, stillbirths and live births between 1979 and 2007 in 387,067 consecutive births (the prevalence of achondroplasia was 6.4 per 100,000 births), and 223 cases ascertained from the French Little People organization built on the model of LPA (Little People of America, Inc.). Out of these 248 cases of achondroplasia 37 (14.9%) had associated anomalies including 4 (1.6%) cases with chromosomal abnormalities (2 trisomies 21, one 22 q11.2 deletion, and one 47, XXX), 2 (0.8%) cases with recognizable non-chromosomal conditions (one Moebius syndrome and one Pierre Robin sequence) and 31(12.5%) cases with MCA (multiple congenital anomalies). The 31 cases with MCA had 45 anomalies. Anomalies in the urogenital system (24.4%), the cardiovascular system (20.0%), the musculoskeletal system (15.5%), the central nervous system (11.1%), the eye (11.1%), and the orofacial system (8.8%) were the most common MCA. The overall prevalence of associated anomalies shows that the individuals with achondroplasia need a careful screening for other congenital anomalies.

Anterior cruciate ligament reconstruction using quadriceps tendon autograft is a viable option for small-statured female patients.

PURPOSE: The choice of graft for anterior cruciate ligament (ACL) reconstruction remains controversial. The quadriceps tendon (QT) autograft is a good alternative for ACL reconstruction. However, concerns regarding its use in short-statured patients, related to donor site morbidity, anterior knee pain, or loss of muscle strength remain. This study aimed to compare muscle strength and morbidity between patients with short and normal statures following ACL reconstruction with a QT autograft. METHODS: A total of 73 female patients (mean age, 33.8 ± 11.5 years) who underwent primary ACL reconstruction between 2016 and 2019 were included. Patients were categorized into two groups: group S, with a height ≤ 163 cm, and group L, with a height > 163 cm. Muscle strength, harvesting site morbidity, and ACL-return to sport after injury scale (ACL-RSI) were evaluated, with a mean timing of the follow-up of 9.0 ± 2.3 months. RESULTS: The mean quadriceps strength for the isokinetic measurements at 60° and 240° was 65.0% and 74.0% in group S, respectively, and 70.0% and 75.7% in group L, respectively. There was no significant difference in the postoperative muscle strength or mean ACL-RSI (group S, 70.0; group L, 65.9) between the groups. No donor site morbidity was observed in either group. CONCLUSION: Muscle strength recovery, morbidity, and readiness to return to sports were similar in both groups, which supports the possibility of QT autografts for patients with a small stature. The results of this study may provide useful information for surgeons who are hesitant to perform QT autografts because of patient physique. LEVEL OF EVIDENCE: IV.

Optimal baseplate position in reverse shoulder arthroplasty in small-stature Japanese women†:†a cadaveric study.

The purpose of this study was to determine the optimal position of the baseplate on the small glenoid of female Japanese. Two sets of 3D scapular models were made according to the CT data of 7 female cadavers. We set two scenarios of the baseplate placement : A and B. In scenario A, the baseplate was placed on the glenoid face centrally in the anteroposterior direction. In scenario B, the baseplate was implanted at the point where the baseplate post was contained within the glenoid vault. Whether or not the baseplate post perforated the scapular neck was recorded. In scenario A, the central post penetrated the scapular neck posteriorly in 5 scapulae. In scenario B, the average distances from the guide pin position to the anterior glenoid rim was 9.7 ±â€…1.7 mm and the optimal position of the guide pin was 1.9 ±â€…1.7 mm anterior from the glenoid center. The central post was contained within the scapula without breakage of the cortex. This study demonstrated that shifting the center of the baseplate slightly anterior to the anatomic center is necessary to avoid perforation of the scapular neck in small female Japanese. J. Med. Invest. 68 : 175-180, February, 2021.

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.

CONTEXT: Silver-Russell syndrome (SRS) is a clinical and molecular heterogeneous disorder associated with short stature, typical facial gestalt, and body asymmetry. Though molecular causes of SRS can be identified in a significant number of patients, about one-half of patients currently remain without a molecular diagnosis. However, determination of the molecular cause is required for a targeted treatment and genetic counselling. OBJECTIVE: The aim of this study was to corroborate the role of HMGA2 as an SRS-causing gene and reevaluate its mode of inheritance. DESIGN, SETTING, PATIENTS: Patients were part of an ongoing study aiming on SRS-causing genes. They were classified according to the Netchine-Harbison clinical scoring system, and DNA samples were investigated by whole exome sequencing. Common molecular causes of SRS were excluded before. RESULTS: Three novel pathogenic HMGA2 variants were identified in 5 patients from 3 SRS families, and fulfilling diagnostic criteria of SRS. For the first time, homozygosity for a variant in HMGA2 could be identified in a severely affected sibpair, whereas parents carrying heterozygous variants had a mild phenotype. Treatment with recombinant growth hormone led to a catch-up growth in 1 patient, whereas all others did not receive growth hormone and stayed small. One patient developed type 2 diabetes at age 30 years. CONCLUSIONS: Identification of novel pathogenic variants confirms HMGA2 as an SRS-causing gene; thus, HMGA2 testing should be implemented in molecular SRS diagnostic workup. Furthermore, inheritance of HMGA2 is variable depending on the severity of the variant and its consequence for protein function.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. RESULTS: We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. CONCLUSIONS: We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

Outcomes of reverse shoulder arthroplasty using a mini 25-mm glenoid baseplate.

PURPOSE: As worldwide use of reverse shoulder arthroplasty (RSA) increases, a range of implant sizes may be required to match regional and ethnic variation in patients' height and bone size. The purpose of this study was to report the outcomes of RSA using a mini 25-mm-diameter glenoid baseplate in smaller patients with rotator cuff arthropathy. METHODS: Between 2009 and 2012, 28 patients underwent RSA for cuff-tear arthropathy using a 25-mm circular glenoid baseplate (Aequlais Reversed, Tornier, Bloomington, MN, USA). Twenty-four patients were able to return for comprehensive follow-up. The mean height of the entire cohort was 158 ± 10 cm (5 ft. 2 in.). The indication to use a smaller baseplate was a combination of preoperative templating using computed tomography (CT) and intraoperative measurements of glenoid width. RESULTS: At a mean of 36 ± 8 months' follow-up, there were no revisions or glenoid-sided failures. The mean American Shoulder and Elbow Surgeons (ASES) score was 70 ± 10, the Simple Shoulder Test (SST) was 10 ± 2, the Constant was 60 ± 10 and the Disabilities of the Arm, Shoulder and Hand (DASH) was 18 ± 15. Mean active forward elevation was 140 ± 15°, active external rotation was 21 ± 15° and active internal rotation was to the sacroiliac joint. Mean shoulder strength in flexion was 5.2 ± 1.7 kg, in external rotation was 2.9 ± 1.4 kg and in internal rotation was 4.3 ± 1.2 kg. Radiographs demonstrated no evidence of glenoid loosening. There was, however, a 62 % rate of scapular notching. CONCLUSIONS: Short-term outcomes of mini 25-mm baseplate RSA in proportionally smaller patients are good and demonstrate implant safety and effectiveness. Scapular notching rates are worrisome, and additional follow-up is necessary to determine if notching is progressive and becomes symptomatic.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.

Isocromosoma 18q en mosaico: caso clínico / Mosaic Isochromosome 18q: case-report

Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.

Introducción: El Isocromoma 18q y la deleción del brazo corto del cromosoma 18 (18p-), son anomalías estructurales que se reportan con cierta frecuencia en la literatura. Sin embargo, la asociación de ambas alteraciones en una misma paciente es muy infrecuente. Objetivo: Descripción de un caso clínico de Isocromosoma 18 con énfasis en la escasas manifestaciones fenotípicas. Caso Clínico: Lactante femenino de 18 meses de edad portador de talla baja, dismorfias menores y un leve retraso del desarrollo sicomotor, cuyo estudio cromosómico en sangre periférica mostró un mosaico compuesto por un isocromosoma del brazo largo del cromosoma 18 y otro cromosoma 18 con deleción del brazo p. El análisis cromosómico de ambos padres no mostró alteraciones numéricas ni morfológicas. Discusión: Este caso ilustra la importancia de solicitar un cariograma en pacientes con talla baja, dismorfias y/o malformaciones. Se describen las malformaciones encontradas y se compara con otros casos similares descritos en la literatura. La alteración estructural en mosaico reportada es sumamente infrecuente.

Manifestaciones clínicas más frecuentes en pacientes con sindrome de Turner del Instituto de Genética, La Paz-Bolivia período 1990 - 2004 / Most frequent clinical features of patients whit Turner syndrome in the Instituto de Genética La Paz - Bolivia, From 1990 - 2004

Objetivo. Identificar los signos clínicos más frecuentes en pacientes con Síndrome de Turner.Diseño Corte transversal. Lugar: Instituto de Genética; La Paz, Bolivia.Población 36 pacientes con diagnóstico citogenético. Métodos: Recolección de datos clínicos de pacientes con Síndrome de Turner períodos 1990-2004. Se excluyeron pacientes que presentaban similares fenotipos y con cariotipo no compatible. Resultados: Manifestaciones clínicas más frecuentes: baja talla proporcionada 77.8%, disgenesia gonadal 61.1%, pterigium colli 27.8%, displasia de pabellones auriculares 33.3%. La edad de diagnóstico corresponde: < 5años 11.1%, entre 10 a 14 años 44.4%. Citogeneticamente el 72% fueron 45 X0, 28% mosaicos. Conclusión: Clínicamente el Síndrome de Turner es variable, y es diagnosticado más frecuentemente durante la adolescencia, etapa en la que se perdieron oportunidades para un adecuado tratamiento que coadyuve a prevenir complicaciones.El fenotipo de esta cromosomopatía actualmente a sido relacionado con mutaciones de genes como RPS4X y SOS.

Objective. Identify the most frequents clinical Turner syndrome patients features. Design Cross section. Place Genetic Institute, La Paz, Bolivia. Participants 36 patients with Turner Syndrome. Methods Clinical features data were collected from Genetic Institute records. Patients with similar clinical features with out cariotyping diagnosis where not included. Results We find small stature 77.8%, gonads dysgenesis 61.1%, pterigium colli 27.8%, anomalous auricles 33.3%. Age of diagnosis was less than 5 years 11.1%, between to 10 to 14 years 44.4%. Cytogenetic analysis report monosomy in 72% , mosaics (28%). Conclusions The clinical features of Turner Syndrome are variable, the diagnosis it's most frequency during puberty, age where could it be late to prevent consequences. The phenotype of Turner Syndrome has been related to RPS4X and SOS genes.