scholarly journals Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 373
Author(s):  
Fozia Fozia ◽  
Rubina Nazli ◽  
Sher Alam Khan ◽  
Ahmed Bari ◽  
Abdul Nasir ◽  
...  
Keyword(s):  
Skin Surface ◽  
The Body ◽  
Clinical Report ◽  
Ancient Greek ◽  
Congenital Ichthyosis ◽  
Whole Exome ◽  
Associated Symptoms ◽  
Molecular Etiology ◽  
Homozygous Mutations ◽  
Scaly Skin

Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys” meaning fish, this is because the ichthyosis patients have dry, thickened, and scaly skin. There is an excess accumulation of epidermal cells resulting in the appearance of continuous and widespread scales on the body. There are many varieties of ichthyosis with a broad spectrum of intensity, severity, and associated symptoms, most of them are extremely rare. Ichthyosis vulgaris is the most frequently occurring type of ichthyoses. Method: The present study consists of four Pakistani ichthyosis families (A, B, C, and D). Whole exome sequencing (WES) approach was used to identify the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: Total four variants including, two splice site (TGM1: c.2088 + 1G > A) and (SPINK5: c.882 + 1G > T), a missense (SULT2B1: c.419C > T; p. Ala140Val), and a nonsense (FLG: c.6109C > T; p. Arg2037Ter) variant were identified in families A, C, B, and D, respectively, as causative mutations responsible for ichthyosis in these families. Conclusion: Our study unravels the molecular etiology of the four Pakistani ichthyosis families and validates the involvement of TGM1, SULT2B1, SPINK5, and FLG, in the etiology of different forms of ichthyosis. In addition, this study also aims to give a detailed clinical report of the studied ichthyosis families.

Management of complicated shunt infections: a clinical report

2008 ◽  
Vol 1 (3) ◽  
pp. 223-228 ◽  
Author(s):  
Hector E. James ◽  
John S. Bradley
Keyword(s):  
Antibiotic Therapy ◽  
Treatment Protocol ◽  
Shunt Infection ◽  
The Body ◽  
Clinical Report ◽  
Intravenous Antibiotic ◽  
Once Daily ◽  
Intravenous Antibiotic Therapy ◽  
Shunt Infections

Object The authors present their experience with a protocol for the treatment of patients with complicated shunt infections. Methods Complicated shunt infections are defined for the purpose of this protocol as multiple compartment hydrocephalus, multiple organism shunt infection, severe peritonitis, or infections in other sites of the body. The initial treatment protocol for these patients was 3 weeks of intravenous antibiotic therapy and 2 weeks of twice daily intraventricular/intrashunt antibiotic therapy. Cerebrospinal fluid (CSF) cultures were monitored during therapy and obtained again 48 hours after completion. The shunt was completely replaced. Additionally, follow-up cultures were obtained in all patients 3–6 months after therapy was completed. Results A cure of the infection was achieved in all patients as defined by negative cultures obtained at completion of antibiotic therapy and in follow-up studies. The follow-up period was 2–11 years (mean 4.4 ± 2.5 years). The treatment protocol was modified in the patients treated after 1991, and 18 patients were treated with this modified treatment regime. In these patients, intraventricular antibiotics were administered only once daily for 14 days, and the CSF was cultured 24 hours after antibiotic therapy had been stopped instead of after 48 hours. The results were similar to those obtained with the initial protocol. Conclusions Based on their prospective nonrandomized series, the authors believe that patients with complicated shunt infections can be successfully treated with 2 weeks of intraventricular antibiotic therapy administered once daily, concurrent with 3 weeks of intravenous antibiotic therapy. This protocol reduces length of treatment and hospital stay, and avoids recurrence of infection.

Inhibiting ventilatory evaporation produces an adaptive increase in cutaneous evaporation in mourning doves Zenaida macroura

1999 ◽  
Vol 202 (21) ◽  
pp. 3021-3028 ◽  
Author(s):  
T.C. Hoffman ◽  
G.E. Walsberg
Keyword(s):  
Skin Surface ◽  
The Body ◽  
Evaporative Heat Loss ◽  
Evaporative Water ◽  
Zenaida Macroura ◽  
Ambient Temperatures ◽  
Rapid Adjustment ◽  
Mourning Doves ◽  
A Minor ◽  
Cutaneous Evaporation

We tested the hypothesis that birds can rapidly change the conductance of water vapor at the skin surface in response to a changing need for evaporative heat loss. Mourning doves (Zenaida macroura) were placed in a two-compartment chamber separating the head from the rest of the body. The rate of cutaneous evaporation was measured in response to dry ventilatory inflow at three ambient temperatures and in response to vapor-saturated ventilatory inflow at two ambient temperatures. At 35 degrees C, cutaneous evaporation increased by 72 % when evaporative water loss from the mouth was prevented, but no increase was observed at 45 degrees C. For both dry and vapor-saturated treatments, cutaneous evaporation increased significantly with increased ambient temperature. Changes in skin temperature made only a minor contribution to any observed increase in cutaneous evaporation. This indicates that Z. macroura can effect rapid adjustment of evaporative conductance at the skin in response to acute change in thermoregulatory demand.

Body Temperature of the Camel and Its Relation to Water Economy

1956 ◽  
Vol 188 (1) ◽  
pp. 103-112 ◽  
Author(s):  
Knut Schmidt-Nielsen ◽  
Bodil Schmidt-Nielsen ◽  
S. A. Jarnum ◽  
T. R. Houpt
Keyword(s):  
Body Temperature ◽  
Water Conservation ◽  
Skin Surface ◽  
Diurnal Variations ◽  
The Body ◽  
Free Access ◽  
Heat Gain ◽  
Hot Environment ◽  
Access To Water ◽  
The Given

The rectal temperature of normal healthy camels at rest may vary from about 34°C to more than 40°C. Diurnal variations in the winter are usually in the order of 2°C. In summer the diurnal variations in the camel deprived of drinking water may exceed 6°C, but in animals with free access to water the variations are similar to those found in the winter. The variations in temperature are of great significance in water conservation in two ways. a) The increase in body temperature means that heat is stored in the body instead of being dissipated by evaporation of water. At night the excess heat can be given off without expenditure of water. b) The high body temperature means that heat gain from the hot environment is reduced because the temperature gradient is reduced. The effect of the increased body temperature on heat gain from the environment has been calculated from data on water expenditure. These calculations show that under the given conditions the variations in body temperature effect a considerable economy of water expenditure. The evaporative heat regulation in the camel seems to rest exclusively on evaporation from the skin surface (sweating), and there is no apparent increase in respiratory rate or panting connected with heat regulation. The evaporation from isolated skin areas increases linearly with increased heat load. The critical temperature at which the increase sets in is around 35°C. The fur of the camel is an efficient barrier against heat gain from the environment. Water expenditure is increased in camels that have been shorn.

scholarly journals Desain Bilik Sterilisasi "White Box"

2021 ◽  
Vol 17 (1) ◽  
pp. 68-75
Author(s):  
Noor Hamidah ◽  
Dwi Anung Nindito ◽  
Tatau Wijaya Garib ◽  
Waluyo Nuswantoro ◽  
Mahdi Santoso
Keyword(s):  
Performance Test ◽  
Design Method ◽  
Skin Surface ◽  
The Body ◽  
Piping System ◽  
Design Activity ◽  
Test Function ◽  
Function Test ◽  
And Performance ◽  
Implementation Stage

ABSTRACT The sterilization chamber is designed to sterilize the body using a filler formulation that is not harmful to the skin surface. Formulation, namely the composition of filler fluids (type, dose and amount) using substances that are safe for the body accordingly, certainly provides benefits. The use of the sterilization booth uses the correct and safe filling fluid. The sterilization chamber uses a mist nozzle sprayer (with the appropriate discharge) to spray the filling liquid so that the user is safe. This sterilization booth is named "White Box". This "White Box" research aims to design (functional and structural) and test (function test and performance test) on a system and mechanism for condensing the condensation of a humidifier that can fill the sterilization room optimally. The design method of the "White Box" sterilization booth uses a qualitative method with the following phases: (1) The preparation stage, namely the functional design and the structural design of the "White Box"; (2) The implementation stage is analyzing the use of tools and materials and making sterilization booths; (3) Post-implementation stage, namely testing the sterilization chamber, including the function test and performance test of the sterilization chamber. The design activity of the "White Box" sterilization booth was carried out by testing various variations of the prototype, including variations in the dimensions of the distribution pipe, the shape of the distribution pipe, and variations of the piping system. The validation process includes: (1) The diameter of the pipe against humidifier dew bursts; (2) The shape of the piping against humidifier dew spray; and (3) the length of the pipe passage to the humidifier dew spray. ABSTRAKBilik sterilisasi didesain untuk mensterilisasi tubuh dengan menggunakan formulasi zat pengisi yang tidak berbahaya bagi permukaan kulit. Formulasi yaitu komposisi cairan pengisi (jenis, takaran dan jumlah) menggunakan zat yang aman bagi tubuh yang sesuai, tentu memberi manfaat. Penggunaan bilik sterilisasi menggunakan cairan pengisi yang benar dan aman. Bilik sterilisasi menggunakan mist nozzle sprayer (yang debitnya sesuai) untuk menyemprotkan cairan pengisinya sehingga pengguna aman. Bilik sterilisasi ini diberi nama "White Box". Penelitian "White Box"ini bertujuan merancang (fungsional dan struktural) dan menguji coba (uji fungsi dan uji kinerja) pada sebuah sistem dan mekanisme penyaluran pengembunan dari alat humidifier yang mampu memenuhi ruang bilik sterilisasi secara optimal. Metode rancang bangun bilik sterilisasi "White Box" menggunakan metode kualitatif dengan tahap kegiatan meliputi: (1) Tahap persiapan yaitu rancangan fungsional dan rancangan struktural"White Box"; (2) Tahap pelaksanaan yaitu analisa penggunaan alat dan bahan dan Pembuatan bilik sterilisasi; (3) Tahap Pasca Pelaksanaan yaitu pengujian bilik sterilisasi antara lain uji fungsi dan uji kinerja bilik sterilisasi. Muatan kegiatan rancang bangun bilik sterilisasi "White Box" dilakukan dengan cara menguji coba berbagai variasi prototipe, meliputi variasi dimensi pipa penyaluran, bentuk pipa penyalur, variasi sistem perpipaan. Proses validasi yang dilakukan meliputi: (1) Diamater pipa terhadap semburan embun humidifier; (2) Bentuk pipa penyalur terhadap semburan embun humidifier; dan (3) Panjang lintasan pipa terhadap semburan embun humidifier.

Cephalexin-Induced Stevens-Johnson Syndrome

1992 ◽  
Vol 26 (10) ◽  
pp. 1230-1233 ◽  
Author(s):  
Kim M. Murray ◽  
Michael S. Camp
Keyword(s):  
Gastrointestinal Tract ◽  
Lupus Erythematosus ◽  
Skin Surface ◽  
Skin Lesions ◽  
Infectious Complications ◽  
The Body ◽  
Stevens Johnson Syndrome ◽  
Medline Search ◽  
Johnson Syndrome ◽  
Macular Rash

OBJECTIVE: To report a case of cephalexin-induced Stevens-Johnson syndrome (SJS), a devastating adverse drug reaction that involves the entire skin surface and mucosal areas of the body. DATA SOURCES: MEDLINE search (key terms cephalosporins, Stevens-Johnson syndrome, erythema multiforme, and systemic lupus erythematosus) and references identified from bibliographies of pertinent articles. DATA SYNTHESIS: Clinical presentation and manifestations of SJS include the skin, eyes, gastrointestinal tract, and pulmonary system. Infectious complications are the leading cause of mortality. Early intervention is important to prevent progression of SJS. The case described is consistent with the features of this syndrome. The patient presented with fever, arthralgias, and malaise. Skin lesions included a diffuse violet macular rash with erythema and multiple bullous lesions on her neck and abdomen. The skin biopsy was consistent with SJS. Multiple mucocutaneous ulcers were found in her mouth, but no evidence of lower gastrointestinal tract involvement was documented. She remained relatively free of pulmonary complaints except for the presenting bronchitis. CONCLUSIONS: Cephalexin should be added to the list of agents to consider as iatrogenic causes of SJS.

Body

2019 ◽  
pp. 23-52
Author(s):  
Nigel Nicholson ◽  
Nathan R. Selden
Keyword(s):  
Health Outcomes ◽  
Human Body ◽  
The Body ◽  
Full Potential ◽  
Healthcare Organizations ◽  
Ancient Greek ◽  
Positive Health ◽  
Patient Health ◽  
Positive Health Outcomes

Chapter 1 explores different conceptions of the human body and their effect on medical care and patient health. Ancient Greek texts offer opposed conceptions of the body, with athletic sources presenting the body as immune to injury and always operating at its full potential and the Hippocratic texts presenting it as weak and highly vulnerable. Similarly divergent narratives also affect modern evaluations of the body by both patients and physicians, interfering with positive health outcomes. Physicians must recognize the operation of these narratives, challenge them with data, and promote a more realistic vision of health and success for patients and healthcare organizations.

Modelling skin surface areas involved in water transfer in the Palmate Newt (Lissotriton helveticus)

2014 ◽  
Vol 92 (8) ◽  
pp. 707-714 ◽  
Author(s):  
Thomas Wardziak ◽  
Laurent Oxarango ◽  
Sébastien Valette ◽  
Laurent Mahieu-Williame ◽  
Pierre Joly
Keyword(s):  
Surface Area ◽  
Skin Surface ◽  
Water Transfer ◽  
The Body ◽  
Body Volume ◽  
3D Analysis ◽  
Evaporative Water ◽  
Surface Areas ◽  
Lissotriton Helveticus ◽  
Palmate Newt

Magnetic resonance imaging (MRI) based 3D reconstructions were used to derive accurate quantitative data on body volume and functional skin surface areas involved in water transfer in the Palmate Newt (Lissotriton helveticus (Razoumovsky, 1789)). Body surface area can be functionally divided into evaporative surface area that interacts with the atmosphere and controls the transepidermal evaporative water loss (TEWL); ventral surface area in contact with the substratum that controls transepidermal water absorption (TWA); and skin surface area in contact with other skin surfaces when amphibians adopt water-conserving postures. We generated 3D geometries of the newts via volume-rendering by a “segmentation” process carried out using a graph-cuts algorithm and a Web-based interface. The geometries reproduced the two postures adopted by the newts, i.e., an I-shaped posture characterized by a straight body without tail coiling and an S-shaped posture where the body is huddled up with the tail coiling along it. As a guide to the quality of the surface area estimations, we compared measurements of TEWL rates between living newts and their agar replicas (reproducing their two postures) at 20 °C and 60% relative humidity. Whereas the newts did not show any physiological adaptations to restrain evaporation, they expressed an efficient S-shaped posture with a resulting water economy of 22.9%, which is very close to the 23.6% reduction in evaporative surface area measured using 3D analysis.

SOMATIC EFFECTS OF IONIZING RADIATION

1960 ◽  
Vol 38 (3) ◽  
pp. 326-330
Author(s):  
E. A. Sellers
Keyword(s):  
Ionizing Radiation ◽  
Dose Rate ◽  
Dose Response ◽  
Tissue Damage ◽  
Response Curve ◽  
Environmental Changes ◽  
Skin Surface ◽  
The Body ◽  
Tissue Dose ◽  
Effects Of Radiation

Radiation is similar to other environmental changes in that the response or injury produced bears a relationship to the degree of stimulus. A time–dose relationship also exists. It differs from other environmental changes in that many more cells of the body remote from the skin surface are affected. The effects depend on absorbed tissue dose and on dose rate. These dosage factors, the varying sensitivity of the tissues, and differing rates of repair account for the phasic pattern of symptoms and tissue damage which follow radiation. Compared with other stressors (especially chemical) the dose–response curve after radiation is steep. The somatic effects of radiation are the sequelae of the specific molecular injury produced by ionization rather than the primary lesions themselves.

The Body of Western Embodiment

2017 ◽  
Author(s):  
Brooke Holmes
Keyword(s):  
Fifth Century ◽  
The Body ◽  
Western Philosophy ◽  
Greek Philosophy ◽  
Ancient Greek ◽  
Interior Space ◽  
Ancient Greek Philosophy ◽  
History Of ◽  
Body And Soul ◽  
The Relationship

Much of western philosophy, especially ancient Greek philosophy, addresses the problems posed by embodiment. This chapter argues that to grasp the early history of embodiment is to see the category of the body itself as historically emergent. Bruno Snell argued that Homer lacked a concept of the body (sōma), but it is the emergence of body in the fifth century BCE rather than the appearance of mind or soul that is most consequential for the shape of ancient dualisms. The body takes shape in Hippocratic medical writing as largely hidden and unconscious interior space governed by impersonal forces. But Plato’s corpus demonstrates that while Plato’s reputation as a somatophobe is well grounded and may arise in part from the way the body takes shape in medical and other physiological writing, the Dialogues represent a more complex position on the relationship between body and soul than Plato’s reputation suggests.

scholarly journals Investigation on the Incidence, Diagnostic, Possibilities and Design of Prophylactic Treatment in an Outbreak of Bacterial Haemorrhagic Septicemia of Carp

2017 ◽  
Vol 74 (1) ◽  
pp. 26
Author(s):  
Daniela LADOSI ◽  
Octavian NEGREA ◽  
Zamfir MARCHIS ◽  
Flore CHIRILA ◽  
Ana Maria Theodora PARASCA
Keyword(s):  
Aeromonas Hydrophila ◽  
Prophylactic Treatment ◽  
Skin Surface ◽  
Skin Lesions ◽  
Body Cavity ◽  
The Body ◽  
Internal Organs ◽  
Biochemical Traits ◽  
Cutaneous Necrosis ◽  
Therapeutic Possibilities

The investigations carried out on a sample of 53 breeders (31 females and 22 males), in a fishing farm of Suatu village, County of Cluj, concerning the incidence of hemorrhagic bacterial septicaemia, diagnosis and profilactico-therapeutic possibilities. Results highlights a incidence of bacteriosis differentiated according to the category of breeders, 54.8% in females and 36.3% in males. Necropsy examination carried out on 3 specimen of suspected bacteriosis, highlights the presence of hemorrhagic skin lesions, which are dotted or diffuse, respectively musculo-cutaneous necrosis and ulcers. Regarding the internal injuries, opening of the body cavity, revealed consistency changes and septicemy form in major internal organs, as well as the presence of a liquid hollow looking sanguinolent.The bacterioscopic examination of smears from the pathologic material (skin surface end internal samples) and colored with the Gram method, reveled bacterial microflora, represented by coccobacillus and straight bacilli or slightly curved, both Gram negative. Furthermore, the bacteriological (culture) exam performed on usual and selective culture mediae, distinguishes the isolation of pure culture bacteriae belonging to the genus Aeromonas. The exam of biochemical traits, with the aid of API 20 E multitest determines that the isolated strains of Aeromonas spp. belong to the species Aeromonas hydrophila, indicted in the emergence and evolution of the bacterial of haemorrhagic septicaemia. Testing strains sensitivity to antibiotics and chemotherapy (through antibiograma level), reflects the isolated bacteria’s values of sensitivity in decreasing order: amoxicillin, oxytetracycline, florfenicol and enrofloxacilin. However, reduced sensitivity was recorded to tetracycline and ampicillin and resistance to erythromycin. 

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