Joubert's syndrome as a cause of cholestasis in children

Literature review and a case report of Joubert syndrome in a preschool child are presented. This syndrome is accompanied by chronic intrahepatic cholestasis, characteristic facial dysmorphia, congenital malformations of the urinary system, eyes pathology, confirmed by a molecular genetic test of TMEM67 gene mutations. Diagnostic aspects of this pathology have been reviewed. The clinical case description. Boy K was admitted to the pediatric hepatology department with respiratory and renal failure, decompensated acidosis. On admission, complaints included shortness of breath, severe itching, pale and dry skin, poor appetite and delayed physical development. On examination, dysembryogenic stigmas: large head circumference, elongated face, protruding forehead, high rounded eyebrows, deeply set eyes, hypertelorism, antimongoloid incision of the eyes, low auricles. The skin was pale, dry with the scratch marks on the arms and legs flexor surfaces. Ankles, wrists skin lichenification, bruising and hyperpigmentation was observed. Moderate palmar erythema, spider veins on the abdomen, watch-glass nails were present. The abdomen was enlarged due to hepatosplenomegaly. A clinical and paraclinical examination was conducted, the patient was consulted by related specialists. Based on the obtained data and molecular genetic examination, the diagnosis was made. Conclusion. Joubert's syndrome may have a clinical presentation similar to that in cholestatic liver disease with typical clinical and laboratory symptoms. The molecular genetic testing is an important workup component in children with liver pathology combined with damage to other organs and systems. Successful treatment is possible providing a multidisciplinary approach used. The study was conducted by the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the abovementioned institution. Informed consent of the child's parents was obtained for the research. The authors declare no conflict of interest. Keywords: Joubert syndrome, cholestasis, children.

Did the Baroque Composer Domenico Scarlatti Have Watch Glass Nails and Drumstick Fingers?

(1) Background: Little is known about the baroque composer Domenico Scarlatti (1685-1757), whose life was centred behind closed doors at the royal court in Spain. There are no reports about his illnesses. From his compositions, mainly for harpsichord, an outstanding virtuosity can be read. (2) Case Presentation: In this case report, the only known oil painting of Domenico Scarlatti is presented, on which he is about 50 years old. In it one recognizes conspicuous hands with hints of watch glass nails and drumstick fingers. (3) Discussion: Whether Scarlatti had chronic hypoxia of peripheral body regions as a sign of, e.g., bronchial cancer or a severe heart disease, is not known. (4) Conclusions: The above-mentioned signs recorded in the oil painting, even if they were not interpretable at that time, are clearly represented and recorded for us and are open to diagnostic discussion from today's point of view.

DESAIN SARANA BAWA DAN PENYIMPANAN PERALATAN PRAKTIKUM PRIBADI BAGI PELAJAR SMK FARMASI

ABSTRAK SMK Farmasi memiliki mata pelajaran yang mengharuskan pelajar melaksanakan praktikum di labolatorium. Kegiatan praktikum mengharuskan pelajar untuk memiliki peralatan pribadi yang wajib dibawa. Saat ini sebagai sarana bawa dan penyimpanannya, pelajar SMK Farmasi menggunakan kotak berbahan plastik yang biasa digunakan untuk tempat makanan. Hal inilah yang melatarbelakangi munculnya ide rancangan ini. Serta permasalahan yang ada saat ini adalah saat jadwal praktikum berlangsung, pelajar SMK Farmasi banyak membawa peralatan, diantaranya peralatan yang mudah pecah maupun yang tidak mudah pecah, namun belum adanya sarana bawa khusus untuk peralatan tersebut. Adapun tujuan rancangan ini adalah untuk mendesain sebuah sarana bawa yang dapat melindungi peralatan-peralatan yang dibawa, diantara lain; pipet tetes, cawan porselin, kaca arloji, batang pengaduk, tissue, lap, sendok tanduk, gunting, kayu penjepit, spatula, forcep, sikat tabung, etiket, label ni, zak plastik, dan botol kaca. Dengan metode perancangan yang sudah dilakukan diantaranya; pengumpulan data analisis, alternatif desain, pengembangan desain dari alternatif terpilih, serta desain akhir. Sehingga dihasilkan desain sarana bawa dan penyimpanan peralatan praktikum bagi Pelajar SMK Farmasi Samarinda yang memiliki sekat-sekat khusus peralatan praktikum pribadi Pelajar SMK Farmasi Samarinda, dan menggunakan gaya desain modern, serta sistem bukaan menggunakan resleting, dengan warna biru dan putih yang melambangkan ciri SMK Farmasi. Kata Kunci : Desain Sarana Bawa, SMK Farmasi Samarinda, Perlatan Praktikum ABSTRACT Pharmacy Vocational Schools have subjects that require students to carry out practical work in laboratories. Practical activities require students to have personal equipment that must be carried. Currently as a means of carrying and storing it, students of Pharmacy Vocational Schools use plastic boxes that are used for food. This is the background of the emergence of this design idea. As well as the problems that exist today are when the practicum schedule takes place, many Pharmacy Vocational students carry equipment, including fragile and non-fragile equipment, but there is no special means of carrying it for the equipment. The purpose of this design is to design a vehicle that can protect the equipment carried, among others; drop pipette, porcelain cup, watch glass, stirring rod, tissue, cloth, horn spoon, scissors, wooden tongs, spatulas, forceps, tube brushes, etiquette, labels, plastic bags, and glass bottles. With the design method that has been carried out including; analysis of data collection, alternative design, design development of selected alternatives, and final design. So that the design of the carrying facilities and storage of practicum equipment for Samarinda Pharmacy Vocational School students who have special barriers to the personal practicum equipment of Samarinda Pharmacy Vocational School students, and using a modern design style, and openings system using zippers, blue and white symbolize the characteristics of Pharmacy Vocational Schools. Keywords: Carrying Facilities Design, Samarinda Pharmacy Vocational School, Practical Equipment

A COMPARATIVE STUDY ON CORNEAL DISEASES IN AYURVEDA

Cornea is a transparent anterior one-sixth outer fibrous coat of the eye ball which is called Krishna mandala in Ayurveda, resembles a watch-glass in the wrist watch. The diseases of Cornea are due to damage to the Cornea by various causative factors that result in loss of transparency of the Cornea and progress into different stages of disease condition. These different stages of corneal diseases stand a major role in classification of corneal diseases in Ayurveda, i.e; Krishnagata Rogas. Out of total 76 eye diseases mentioned by Sushruta, he had enumerated Krishnagata Netra Roga as 4 in number. Vagbhata had enumerated total eye diseases as 94 among them 5 types of Krishnagata Netra Roga. A comprehensive literary study of assorted text books of Ancient Medicine in view of analogy between Allopathic corneal disorders and Ayurvedic Krishnagata Roga. The purpose of this comprehensive study is paralleling of corneal diseases in both the systems of medicine. The academic Ayurvedic manuscripts had ordered the corneal ailments in a serial and accelerating manner in which one condition will lead to next reciprocal stage of the disease. In a complimentary manner, an attentive effort has been executed to parallel the corneal ailments in both the Systems of Medicine. For the comparison of corneal disorders in both the systems of medicine, the clinical symptoms, advancement of disease, prognostic causes, and management have been considered.

Gross anatomy of the skull of hippopotamus (Hippopotamus amphibius)

Morphological studies were conducted on the skull of a hippopotamus brought to the Veterinary college for postmortem examination. Skull of the hippopotamus was huge and notable for its little brain case and high supra-orbital ridges. The skull had a larger splanchnocranium than the neurocranium. From the dorsal view, the skull had a watch glass appearance because of its narrow middle portion (at the region of maxillae) and wide caudal and rostral portions. Maxilla showed a large Eminenta canina and two infraorbital foramina leading to two separate infraorbital canals. The premaxilla lodged two huge incisors and just above the central incisor, there was a large rough eminence for the elevated nostrils. Three to four large rounded lacrimal bullae were seen on the floor of the bony orbit. Frontal bone presented a strongly convex smooth supra-orbital ridge that formed upper margin of the orbit which projected from the surface of the skull. The median sagittal crest was very high that diverged to accommodate the concave forehead in front. Temporal fossa was very extensive. Caudal surface of the skull showed a concave nuchal surface and the external occipital protuberance was in the form of a crest. The paramastoid process and external auditory process were very short. Bulla tympanica was conical with a pyramidal muscular process. Anatomical peculiarities of the skull and their functional significance are discussed.

Internal reflection on a watch glass surrounded by water: A simple experiment and a variation

When a watch is submerged in water, an observer might come to realize that the glass surface appears silver, like a mirror, due to internal reflection. However, it is not possible to clearly identify in which surface - internal or external - this reflection occurs. An experimental variation is proposed, using a thicker glass, allowing better identification of the inner surface as the reflector, along with hints for qualitative and quantitative discussions.