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"ABSTRACTCongenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low. Since many districts have their own public healthcare facilities to screen and diagnose congenital hypothyroidism in children at very young age, a delayed diagnosis in adulthood is actually a rare case.In this medical illustration, we report a case of 21 year-old woman who came to our hospital with abdominal pain. She had mental retardation with no capability to communicate well with other person. She had a short stature (her height was less than 1 meter). She also had mongoloid face with big lips and a very big tongue. There was no goiter or lump on her neck. Her motoric performance was very weak and frail. During abdominal examination, we could see an umbilical bulging on her abdominal wall and on palpation, we could feel an umbilical hernia. By abdominal ultrasound, we could see the umbilical hernia. Unfortunately, no diagnosis of congenital hypothyroidism had been made when she was a newborn, there was also no past or known history of thyroid disease of her and her family. She had a diagnosis of mental retardation with no specific etiology since she was 5-years old. Based on the results of her laboratory examination, we had a confirmed diagnosis of primary hypothyroidism with T4 10,56 nmol/L (normal 60-120 nmol/L) and TSH > 100 mIU/mL. We provided her treatment using levothyroxine based on her body weight (25 mg daily). We arranged her to have abdominal CT Scan and digestive surgery as further management for her umbilical herniation.Some defects are correlated with congenital hypothyroidism when the disease is not treated properly and adequately. Neurocognitive, neuromotoric, growth, and development are some areas which can be disrupted by long-term hypothyroidism condition for patients who had the disease since their early years of life. Congenital hypothyroidism appears to be associated with an increased risk of congenital malformations. Several congenital malformations associated with congenital hypothyrodism are umbilical hernia, congenital heart disease, neurologic abnormalities, genitourinary malformations, cleft palate, and Downs syndrome.Studies concluded that severity of the congenital hypothyroidism has more important role than timing of treatment initiation on long-term cognitive and motor outcomes. Detrimental effects on developmental outcomes in congenital hypothyroidism patients may persist over time; however, early treatment for patients at very early ages may bring the best cognitive outcomes and neuromotoric development.Regardless of the treatment options, we can say that it is a loss case and a very late diagnosis and treatment of congenital hypothyroidism. The unusual age of detection, delayed diagnosis and treatment are some reminders for primary care physicians in our society to pay greater attention to screening programs. 6 Early detection and prompt treatment is an essential part of measures to reduce burden of mental retardation in our society. Delayed diagnosis of congenital hypothyroidism case, which is diagnosed at adulthood, indicates failure in screening program. Early diagnosis and treatment are necessary to prevent long-term catastrophic effects. This a wake-up call of attention and awareness for general public and primary care physicians in our country."

"ABSTRACTLatarbelakang. Terapi yang adekuat pada penderita HAK diharapkan dapat mengoptimalkan perkembangan pubertas dan pertumbuhan linear penderita HAK. Saat ini belum ada data mengenai profil pubertas dan pertumbuhan linear penderita HAK di Indonesia yang menjalani terapi.Tujuan. Mengetahui profil pubertas dan pertumbuhan linear penderita HAK di Indonesia yang menjalani terapi.Metode.Studideskriptifserial kasusterhadap14 kasus HAK yang memasukimasapubertas di Departemen Ilmu Kesehatan Anak Rumah Sakit Cipto Mangunkusumo selama bulan November 2012 hingga April 2013. Pada subjek dilakukan pencatatan data, berupa anamnesis, pemeriksaan fisis, dan pemeriksaan laboratorium dan radiologibone age.Hasil penelitian. Hasil penelitian ini merupakanriset pendahuluan (preliminary research) terhadap 14 kasus HAK. Mayoritas penderita HAK di Jakarta yang menjalani terapi adalah perempuan, berusia di atas 8 tahun, HAK tipeSalt-Wasting (SW) dan terdiagnosis< 1 tahun. Tujuh dari 14 subjek mengalami obesitas. Penderita HAK yang menjalani terapi mengalami under treatment ditunjukkan dengan 11/14 subjek memiliki bone age accelerated dengan perhitungan tinggi badan dewasa yang pendek. Tiga belas subjek sudah pubertas dan 10/14 subjek mengalami pubertas prekoks. Dosis glukokortikoid yang diberikan pada subjek HAK masih dalam rentang dosis yang direkomendasikan (median 18,12 mg/m2/hari) dengan median durasiterapi 8,1 tahun. Kontrol metabolik penderita HAK dengan menggunakan parameter 17-OHP bervariasi dengan rentang 0,2-876 nmol/L (rerata 166,9 nmol/L).Simpulan. Under treatment menyebabkan gangguan tumbuhkembang penderita HAK pada penelitian ini. Under treatment disebabkan karena ketidakteraturan terapi dan pemantauan terapi yang buruk. Edukasi berkala pada pasien HAK diperlukan untuk meningkatkan keteraturan terapi.

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ABSTRACTBackground. Adequacy treatment can optimalize the puberty and linear growth in patient with congenital adrenal hyperplasia (CAH). Puberty and linear growth profile of CAH children in Indonesia is unknown.Objective.To study the profile of puberty and linear growth in Indonesian children with CAH on therapy.Methods. Descriptive study of 14 cases of CAH at Department of Child Health CiptoMangunkusumo Hospital during November 2012 to April 2013. Study included anamnesis, physical, laboratory, and bone age examination.Results. This is preliminary research of 14 cases of CAH. Most of CAH subjects were girls, age more than 8 years old, salt wasting type, and diagnosed less than 1 years of age. Seven subjects were obesity. The CAH patients were undertreatment which 11/14 subjects have bone age accelerated and 10/14 subjects were precocious puberty. Dose of glucocorticoid based on recommendation (median dose of glucocorticoid was 18,12 mg/m2/day,duration of therapy was 8,1 years). Metabolic control of 17-OHP parameter showed variable level with range 0,2-876 nmol/L(mean 166,9 nmol/L).Conclusions. Undertreatment can interfere linear growth and development (precocious puberty and short stature) of CAH patients in this study. Worst compliance and monitoring therapy will lead to undertreatment so that frequent education to CAH patients is needed for longterm treatment."

"Anomali kongenital dapat mengakibatkan kematian pada anak apabila tidak ditangani secara tepat. Pembedahan merupakan intervensi utama untuk mencegah mortalitas, namun dapat menimbulkan kecemasan pada orang tua. Kecemasan orang tua erat kaitannya dengan tingkat pengetahuan pra-operasi. Penelitian ini bertujuan untuk mengidentifikasi hubungan tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital. Penelitian ini menggunakan desain penelitian potong lintang (cross sectional) dengan metode consecutive sampling yang melibatkan 125 orang tua. Instrumen yang digunakan adalah instrumen pengetahuan pra-operasi dan State Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Analisis uji statistik menggunakan uji Chi-square dan Fisher exact. Hasil penelitian menunjukkan terdapat hubungan bermakna antara tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital (p= 0,014;α= 0,05). Penelitian ini diharapkan dapat berguna untuk pengembangan ilmu keperawatan dimasa yang akan datang terkait edukasi pra-operasi untuk menurunkan tingkat kecemasan orang tua.

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Congenital anomalies can result in death in children if not handled properly. Surgery is the main intervention to prevent mortality, but it can cause anxiety in the parents. Parental anxiety is closely related to the level of pre-operative knowledge. This study aimed to identify the relationship between preoperative knowledge and parents’ anxiety in children with congenital anomalies. The research design was cross-sectional with a consecutive sampling method involving 125 parents. The instruments used were preoperative knowledge instruments and State-Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Statistical test analysis using the Chi-square test and Fisher's exact. The results showed that there was a significant relationship between the level of preoperative knowledge and the anxiety level of parents in children with congenital anomalies (p= 0,014; α= 0,05). This research is expected to be useful for the development of nursing science in the future related to pre-surgery education to reduce parents' anxiety levels."

"Co-occurrence of cyanotic congenital heart disease (CCHD) and phaeochromocytoma (PCC) and paraganglioma (PGL) are rare, although some cases have been reported. We report a case of left paraganglioma in a 20-year-old lady with an underlying CCHD who underwent palliative Glenn shunt, subsequently developed polycythaemia and cavernous sinus thrombosis presented with palpitation, sweating, headache and hypertension of 3-months duration at the age of 17. The abdominal CT scan revealed an enhancing left paraaortic mass measuring 5.2 cm x 4.4 cm x 3.8 cm. A 24-hour urine catecholamine demonstrated raised noradrenaline level to six times upper limit of normal and hence diagnosis of left sympathetic (sPGL) was made. In view of the delayed diagnosis and significant morbidity associated with her condition, surgical treatment is no longer an option. Therefore, vigilant screening and early treatment of PCC-PGL in patients with CCHD are crucial in order to avoid significant morbidity and ensure a good quality of life."

"This book is a practical guide to the use of TEE (transoesophageal echocardiography) in the diagnosis of congenital heart disease (CHD). Beginning with an introduction to TEE for CHD, the following chapters describe procedures to be used for different cardiac conditions. 3D TEE allowing multi-dimensional perspectives is also covered."

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosistepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan danperkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupunada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital(SHK) untuk menemukan kasus bayi yang menderita HK.Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkestentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHKtahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkanoutcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkandata riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK.Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosisinisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasiltersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan padapenyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihatadanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HKyang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolonganmedis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining danterapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegahakibat gejala gangguan tumbuh kembang.

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ABSTRACTCongenital hypothyroidism (CH) is a congenital disorder that can have an impact inthe form of permanent mental retardation. Giving the right dose of levothyroxine atthe earliest possible age, can prevent the disruption of growth and development.Newborns do not show symptoms of CH, and unfortunately the symptoms appear inthe late period and in many cases it shows growth disorders. The congenitalhypothyroidism screening (CHS) program has been implemented to find infant caseswith CH, and followed up with treatment.Although it has been made since 2006, Minister of Health just issued the regulationin 2014 on the implementation of CHS in Indonesia. This economic evaluation of theCHS program in 2014-2015 was done using cost analysis, while outcome obtainedfrom the systematic review (SR). The assumptions used in the analysis weredeveloped based on real data from a CHS screening program in two referrallaboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies werefound as CH positive cases.The result of the SR revealed that the earlier onset of initiation therapy, the moreadequate dose and the more continuous therapy given to the patient, the better resultwill be achieved. It will prevent the patients from severe complications of CH andwill improve the quality of thegrowth and development..The study found that the economic benefit is achieved in the second year of CHtreatment, since the pathological symptoms generally appear at the age of 3-6 monthand parents seek care in the second year. Consequently, cost to treat patients willincrease. The cost of screening and early treatment was found worthy as compared toeconomic loss resulting from growth disorders."

"ABSTRAKBinders syndrome or maxillonasal dysostosis is a rare congenital condition that primarily affects the mid face and sometimes the vertebrae. It was named after von Binder who described three cases of hypoplastic maxilla nasal complex in 1962. It can either occur as a sporadic mutation or may be inherited in an autosomal recessive pattern with incomplete penetrance. Decrease in the naso labial angle, flat forehead, dish shaped face, absence of protrusion of nasal tip, absence of nasal flare with triangular or semilunar nostrils, palpable depression in the nasal floor and a class III tendency are characteristic of the syndrome. Vertebral anomalies are seen in some patients owing to the parallel development of the nasal complex and vertebrae in the third month of intrauterine life. Prenatal diagnosis may be done using ultrasonography at 21 weeks of pregnancy. A multi disciplinary approach towards planning of treatment for individuals with Binders syndrome includes orthodontic treatment along with osteotomies and grafting to correct the nasal and mid face defects."

"Penyakit Jantung Bawaan (PJB) sering dikaitkan dengan malnutrisi yang dipengaruhi oleh berbagai faktor yang mengakibatkan peningkatan morbiditas dan mortalitas, penatalaksana yang tepat dapat menurunkan infeksi, lama rawat, bahkan kematian. Penelitian ini dilakukan untuk mengidentifikasi faktor-faktor yang berhubungan dengan status gizi kurang pada anak dengan PJB. Penelitian ini menggunakan observasional analitik dengan rancangan case control.  Sampel penelitian berjumlah 114 anak PJB di Rumah Sakit Jantung Jakarta periode Juli 2020 hingga Juni 2023. Uji statistik menunjukkan tidak ada hubungan antara usia, jenis kelamin, riwayat BBLR, pemberian ASI eksklusif, jenis PJB dan penyakit penyerta terhadap status gizi kurang pada anak PJB, terdapat hubungan antara kelengkapan imunisasi dengan status gizi kurang pada anak PJB (p value <0,05). Simpulan: dari penelitian ini yaitu faktor nutrisi dan organik tidak berhubungan dengan status gizi kurang anak PJB. Oleh karena itu pelayanan perlu memberikan perhatian terkait status nutrisi dan imunisasi disamping masalah jantung.

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Congenital Heart Disease (CHD) is often associated with malnutrition which is influenced by various factors resulting in increased morbidity and mortality, appropriate management can reduce infection, length of stay, and even death. This research was conducted to identify factors associated with malnutrition status in children with CHD. This study used an analytical observational with a case control design. The research sample consisted of 114 CHD children at the Jakarta Heart Hospital for the period July 2020 to June 2023. The result of this study showed that there was no relationship between age, gender, history of LBW, exclusive breastfeeding, type of CHD and comorbidities on malnutrition status in CHD children, there is a relationship between complete immunization and malnutrition status in CHD children (p value <0.05). Conclusion from this research, nutritional and organic factors are not related to the malnutrition status of CHD children. Therefore, services need to pay attention to nutritional status and immunization in addition to heart problems."