Morphologic abnormalities in Amblyomma mixtum, Amblyomma naponense, Amblyomma cf. oblongoguttatum and Amblyomma tapirellum (Acari: Ixodidae) of Costa Rica

In this work, we describe abnormalities in adults of Amblyomma mixtum, Amblyomma naponense, Amblyomma cf. oblongoguttatum and Amblyomma tapirellum of Costa Rica. General anomalies manifested as body asymmetry, nanism, and gigantism, while local anomalies occurred in the legs, festoons, anal pore and spiracle. These are the firsts mention of abnormalities in ticks from Costa Rica.

Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. On the other hand, cutaneous and subcutaneous atrophy, extensive and severe enough leading to hemiatrophy, of the entire limb is rare. A search of the English literature revealed only eight documented cases to which we are adding two more cases.

Quantitative body symmetry assessment during neurological examination

BACKGROUND: A lack of movement coordination characterized by the undershoot or overshoot of the intended location with the hand, arm, or leg is often found in individuals with multiple sclerosis (MS). Standardized as Finger-to-Nose (FNT) and The Heel-to-Shin (HST) tests are the most frequently used tests for qualitative examination of upper and lower body coordination. Inertial sensors facilitate in performing quantitative motion analysis and by estimating body symmetry more accurately assess coordination lesion and imbalance. OBJECTIVES: To assess the body symmetry of upper and lower limbs quantitatively, and to find the best body symmetry indices to discriminate MS from healthy individuals (CO). METHODS: 28 MS patients and 23 CO participated in the study. Spatiotemporal parameters obtained from six Inertial Measurement Units (IMUs) were placed on the upper and lower extremities during FNT and HST tests. All data were analyzed using statistical methods in MATLAB. RESULTS: Asymmetry indices of temporal parameters showed a significant increase in upper body and lower body asymmetry of MS compared to CO. However, CO have a greater kinematic asymmetry compared to MS. CONCLUSION: Temporal parameters are the most sensitive to body asymmetry evaluation. However, range of motion is completely inappropriate if it is calculated for one movement cycle.

Cutis marmorata telangiectatica congenita: a literature review

Background Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Here, we have compiled information on published CMTC patients with the aim to evaluate the proposed diagnostic criteria by Kienast et al. and address the clinical manifestations, associated anomalies, differential diagnoses, management and prognosis. Our review is based on a search of the PubMed database which retrieved studies between 1922 and April 2019. The search yielded 148 original articles with a total of 485 patients. Results Of the identified patients, 24.5% had generalised CMTC, 66.8% had localised and 8.7% had a non-specified distribution of CMTC. Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium “absence of venectasia” was not met in 20.4% of patients. Conclusion We suggest that children with CMTC should be referred to an ophthalmologist for regular follow-up, and children with CMTC affecting the legs should be monitored for leg length discrepancy throughout the growth period. Furthermore, we suggest reconsideration of the major criterium “absence of venectasia” from the proposed diagnostic criteria, and instead include body asymmetry.

Fluctuating body asymmetry in young Polish women in relation to childhood socioeconomic status

The aim of this study was to analyse the relationship between childhood socioeconomic conditions and body asymmetry in young Polish women. The study measured fluctuating asymmetry (FA), which refers to small random deviations from perfect symmetry in bilaterally paired body structures. Data were obtained from 620 female students aged from 19 to 25 years recruited from Jagiellonian University in Cracow, Poland. The research was carried out in the period from January 2016 to May 2017. A composite fluctuating asymmetry (cFA) of the women was calculated using five bilateral body traits. The lengths and widths of the women’s ears, lengths of their 2nd and 4th digits and wrist widths of the right and left sides of the body were measured twice using standard methodology. The following data were collected in a questionnaire: degree of urbanization of the woman’s place of residence during childhood, number of older siblings, parental education and woman’s dominant hand. The results showed a tendency for FA to fall with an increase in parental education, and to rise with an increase in number of older siblings. The level of FA was significantly lower in women from rural areas than in those from cities. The results of the study show that FA in early adulthood is significantly associated with socioeconomic status during childhood, and confirm that the level of FA in adulthood may be a good indicator of stress factors in the early stages of development.

Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study

Introduction: Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.Methods: Our screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) “three measurements – three questions” screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.Results: At this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.Conclusion: We present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants. Conclusions This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.