Thanatophoric dysplasia (TD) is a lethal inherited skeletal disorder characterized by extremely short limbs, narrow chest, skull deformity and underdeveloped lungs. TD is divided into two types, depending primarily upon whether the bone in the upper leg (the femur) is curved or straight. We experienced two case of TD type I that were confirmed by clinical and radiological features after birth. Unlike previously reported cases of TD in our country, the multiple anomalies of CNS, kidney and cardiovascular system were identified in one of these cases.
Cardiovascular System ; Congenital Abnormalities ; Extremities ; Kidney ; Leg ; Lung ; Parturition ; Skull ; Thanatophoric Dysplasia ; Thorax ; Ultrasonography, Prenatal

Fetal bilateral renal agenesis is a lethal congenital anomaly characterized by bilateral pulmonary hypoplasia, deformities and death due to severe oligohydramnios. This syndrome is associated with malformations of genitourinary tract, cardiovascular system, vertebral bodies or imperforated anus in more than half of the affected individuals. An early and reliable prenatal diagnosis is extremely important because it may offer options for pregnancy termination as early as possible. The criteria for the ultrasonographic diagnosis of bilateral renal agenesis are severe oligohydramnios, nonvisualization of the bladder, empty renal fossae. But poor sonographic resolution of severe oligohydramnios makes it difficult to diagnose the disease. We present a case of bilateral renal agenesis diagnosed at the 18th weeks gestation by using Transvaginal Ultrasonography and Color Doppler.
Anal Canal ; Cardiovascular System ; Congenital Abnormalities ; Diagnosis ; Female ; Oligohydramnios ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography* ; Urinary Bladder

Fetal bilateral renal agenesis is a lethal congenital anomaly characterized by bilateral pulmonary hypoplasia, deformities and death due to severe oligohydramnios. This syndrome is associated with malformations of genitourinary tract, cardiovascular system, vertebral bodies or imperforated anus in more than half of the affected individuals. An early and reliable prenatal diagnosis is extremely important because it may offer options for pregnancy termination as early as possible. The criteria for the ultrasonographic diagnosis of bilateral renal agenesis are severe oligohydramnios, nonvisualization of the bladder, empty renal fossae. But poor sonographic resolution of severe oligohydramnios makes it difficult to diagnose the disease. We present a case of bilateral renal agenesis diagnosed at the 32nd weeks gestation by using color doppler and "lying down" adrenal sign.
Anal Canal ; Cardiovascular System ; Congenital Abnormalities ; Diagnosis ; Female ; Oligohydramnios ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography ; Urinary Bladder

Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare condition originally described by Hutchinson in 1886. Death results from cardiac complications in the majority of cases and usually occurs at an average age of fourteen years. We recently experienced a patient with progeria who died suddenly after symptomatic improvement with conservative treatment. A Doppler and two-dimensional echocardiographic study revealed an enlarged and hypertrophied left ventricle with reduced global systolic function and senile aortic calcific stenosis (peak systolic pressure gradient: 50 mmHg) with a moderate degree of aortic regurgitation. Doppler findings of restrictive hemodynamic suggest severe left ventricular dysfunction due to multiple influences from the aging process, coronary artery and valvular heart disease
Adult ; Cardiovascular System/*ultrasonography ; Case Report ; Coronary Angiography ; *Echocardiography ; *Echocardiography, Doppler ; Heart Catheterization ; Human ; Male ; Progeria/diagnosis/*ultrasonography

PADAM is defined by International Society for the Study of the Aging Male(ISSAM) as a biochemical syndrome associated with advancing age and characterized by a deficiency in serum androgen with or without decreased tissue sensitivity to androgen. The precise role of androgens in the aging process of men remains unclear, and there have been few controlled clinical studies in aging men to investigate the effects of androgen replacement therapy on various organs and human functions known to deteriorate with age(except for studies on muscle and bone). These organs and functions include the mind, the cardiovascular system, the immune system, and the composition of body fat. In addition, the effect of androgen replacement therapy on the prostate is very important in terms of its safety in aging men. Good randomized, double-blind, placebo-controlled clinical studies in the aging male are clearly lacking. We need studies that can help us better understand the effect of long-term androgen replacement therapy(both with testosterone and DHEA) on important aspects of men's health: cardiovascular disease, body composition, cognition and dementia, osteoporosis, and the prostate. Until such data will become available(probably not for the next decade), we recommend a careful and individualized evaluation of present health problems combined with assessment of prostatic health(rectal examination, transrectal ultrasound, and PSA measurement), cardiovascular health, and cerebral status(including overall quality of life) be undertaken before androgen replacement is initiated. Treatment should be monitored by the same criteria. The future will probably bring the development of 'designer androgens' with(ideally) beneficial effects on the cardiovascular system, bone, muscle, fat tissues, and brain, and simultaneous neutral or even inhibitory effects on the prostate. The onset of PADAM is unpredictable and its manifestations are subtle and variable, which has led to a paucity of interest in its diagnosis and treatment. Urological practice commonly includes a large proportion of men older than 50 years. Therefore, it is important for urologists to recognize the manifestations of PADAM and be familiar with evaluations necessary to document, monitor, and treat it.
Adipose Tissue ; Aging* ; Androgens ; Body Composition ; Brain ; Cardiovascular Diseases ; Cardiovascular System ; Cognition ; Dementia ; Diagnosis ; Hormone Replacement Therapy* ; Humans ; Immune System ; Male ; Men's Health ; Osteoporosis ; Prostate ; Testosterone ; Ultrasonography

Persistent cloaca is a very rare congenital malformation with the incidence of 1/50,000-250,000 births. This malformations have a single common perineal opening for the genital, urinary and gastrointestinal tracts. Because of wide spectrum of abnormal anatomy involving upper urinary tract, gastrointestinal systems, cardiovascular system, central nervous system, and respiratory system, prenatal diagnosis is difficult through ultrasound during pregnancy. It has been reported that if the anomalies are diagnosed early, they can be corrected surgically. We present a case of persistent cloaca with meconium peritonitis and hydrometrocolpos confirmed by neonatal surgery after emergency cesarean section.
Cardiovascular System ; Central Nervous System ; Cesarean Section ; Cloaca* ; Emergencies ; Female ; Gastrointestinal Tract ; Incidence ; Meconium* ; Parturition ; Peritonitis* ; Pregnancy ; Prenatal Diagnosis ; Respiratory System ; Ultrasonography ; Urinary Tract

Persistent cloaca is a very rare congenital anomaly with a single common perineal opening for the genital, urinary and gastrointestinal tracts, which arises from defects in the embryonal process of descent of urorectal septum or fusion to cloacal membrane. Anomalies associated with persistent cloaca are found in the upper urinary tract, gastrointestinal tract, cardiovascular system, central nervous system and respiratory system, which are not easily detected through ultrasound during pregnancy. It has been reported that if those anomalies are diagnosed early, they can be corrected surgically. We present a case of persistent cloaca with hydrocolpos confirmed by autopsy after emergency cesarean section which was initially presented as a huge abdominal cystic mass and bilateral hydronephrosis by ultrasound at 34 weeks of gestation.
Autopsy ; Cardiovascular System ; Central Nervous System ; Cesarean Section ; Cloaca* ; Emergencies ; Female ; Gastrointestinal Tract ; Hydrocolpos* ; Hydronephrosis ; Membranes ; Pregnancy ; Respiratory System ; Ultrasonography ; Urinary Tract

Renal agenesis is a disorder characterized by the congenital absence of one or both kidneys due to complete failure of the kidney to form. The syndrome of renal agenesis is severe oligohydramnios, amnion nodosum, flattened face, low-set and floppy ears, and bilateral pulmonary hypoplasia. Bilateral renal agenesis occurs in 0.1 to 0.3 per 1000 births and unilateral involvement occurs in 1 in 500 to 1 in 1300 live births.1,2 Bilateral renal agenesis is an invariably lethal condition, and is associated in more than half of the affected individuals with malformations of the genitourinary tract, cardiovascular system, vertebral bodies or imperforated anus.2 Accurate diagnosis in the mid-trimester permits the parents to allow elective termination. However, the nearly absent amniotic fluid makes an accurate assessment of fetal kidney difficult. We present a case of unilateral renal agenesis with contralateral renal hypoplasia, diagnosed by ultrasonography after amnioinfusion at 21 weeks gestation.
Amnion ; Amniotic Fluid ; Cardiovascular System ; Diagnosis ; Ear ; Female ; Humans ; Kidney ; Oligohydramnios ; Parents ; Parturition ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography

Ultrasound was developed several decades ago as a useful imaging modality, and it became the second most popular diagnostic tool due to its non-invasiveness, real-time capabilities, and safety. Additionally, ultrasound has been used as a therapeutic tool with several therapeutic agents and in nanomedicine. Ultrasound imaging is often used to diagnose many types of cancers, including breast, stomach, and thyroid cancers. In addition, ultrasound-mediated therapy is used in cases of joint inflammation, rheumatoid arthritis, and osteoarthritis. Microbubbles, when used as ultrasound contrast agents, can act as echo-enhancers and therapeutic agents, and they can play an essential role in ultrasound imaging and ultrasound-mediated therapy. Recently, various types of ultrasound contrast agents made of lipid, polymer, and protein shells have been used. Air, nitrogen, and perfluorocarbon are usually included in the core of the microbubbles to enhance ultrasound imaging, and therapeutic drugs are conjugated and loaded onto the surface or into the core of the microbubbles, depending on the purpose and properties of the substance. Many research groups have utilized ultrasound contrast agents to enhance the imaging signal in blood vessels or tissues and to overcome the blood–brain barrier or blood-retina barrier. These agents are also used to help treat diseases in various regions or systems of the body, such as the cardiovascular system, or as a cancer treatment. In addition, with the introduction of targeted moiety and multiple functional groups, ultrasound contrast agents are expected to have a potential future in ultrasound imaging and therapy. In this paper, we briefly review the principles of ultrasound and introduce the underlying theory, applications, limitations, and future perspectives of ultrasound contrast agents.
Arthritis, Rheumatoid ; Blood Vessels ; Breast ; Cardiovascular System ; Contrast Media ; Inflammation ; Joints ; Microbubbles* ; Nanomedicine ; Nitrogen ; Osteoarthritis ; Polymers ; Stomach ; Thyroid Neoplasms ; Ultrasonography*

Primary hyperparathyroidism is a rare endocrine disease in children. It involves bone and joint, urinary tract, gastrointestinal tract and cardiovascular system. The main cause of these involvement is high level of PTH in serum, resulting in hypercalcemia.An 11 years old male patient who had complained of limping gait since last 18 months, showed typical laboratory and radiological findings of primary hyperparathyroidism. At the ultrasonography, computed tomography and radionuclide scanning, a well defined mass(10 X 15mm) was found on the posterior aspect of the right thyroid lobe. The mass was confirmed histologically as adenoma of parathyroid gland. The patient was successfully treated with subtotal parathyroidectomy and temporal administration of calcium and vitamin D.We report this case of primary hyperparathyroidism with brief review of the literatures.
Adenoma ; Calcium ; Cardiovascular System ; Child ; Endocrine System Diseases ; Gait ; Gastrointestinal Tract ; Humans ; Hyperparathyroidism, Primary ; Joints ; Male ; Parathyroid Glands ; Parathyroidectomy ; Thyroid Gland ; Ultrasonography ; Urinary Tract ; Vitamins