The patient is a 21 month old female who was born prematurely (at almost 29 weeks) weighing only 650g. She was released after 3 months from NICU, when she was 41 weeks old, weight 2kg. Her parents did not have any problems till she was 5 months old. Her major problems since have been: poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and later, food administration through a direct gastric tube via a gastrostomy.
21-month-old female who was born at almost 29 weeks weighing only 650g and with birth height of 31 cm. Her major problems have been poor feeding, failure to gain weight and linear growth retardation. The poor feeding has been handled by an NG tube and subsequently, food administration through a direct gastric tube via a gastrostomy. She gradually gained weight to the extent of being overweight for her height. Laboratory evaluation revealed low absolute numbers of neutrophils low lymphocyte count. Endocrynology and Genetics workup were normal.
81-year-old female with age related macular generation in both eyes, most probably of the dry type. In the expert's opinion, she should have a retinal follow-up every 4 months and check her central vision on a daily basis. As for treatment, she should receive the AREDS formulations of vitamins and minerals, because these medications reduce the risk of losing vision.
51-year-old female with vitamin D deficiency and incompatibility between the PTH and vitamin D levels. She reports that as a child she had numerous cavities in her jaw, and her daughter also had multiple tooth fillings. She wonders whether the reason could be genetic abnormality.
10 months old, female. After normal birth (at the 40th week of pregnancy) and neonatal period, started to suffer from gastroesophageal reflux and recurrent respiratory infections, at times with broncospasm. In addition, psychomotor retardation was found and the young patient was assessed by a neurologist. The tests run (EMG and genetics for SMA) pointed to the diagnosis of Spinal Amyotrophy.
After hospitalization due to catarrhal bronchitis, the patient was discharged in good general conditions with recomendations for respiratory physiotherapy and neurological rehabilitation.
10-year-old female with pain and swelling of the right foot was diagnosed bilateral pronatory syndrome. The specialist recommended foot surgery for the lengthening of the Achilles tendon and application of retrograde endorthesis screw. The expert disagrees with the necessity of this procedure, and suggests differential diagnosis and conservative treatment that includes pain killers, soft shoes with soft insoles inside and mild elevation of the medial longitudinal arch of the feet.
74-year-old female suffers from recurrent episodes of paroxysmal atrial fibrillation (PAF) and has been recommended oral anti-coagulant therapy with warfarin (Coumadin). She has mitral regurgitation, and on the other hand was diagnosed as suffering from congenital bronchiectasis with several episodes of significant bleeding (hemoptysis). Following these hemoptoic episodes she underwent series of diagnostic as well as therapeutic pulmonary intervention (bronchoscopy, angiography, embolization).
10-year-old female with pain and swelling of the foot . The diagnose is bilateral pronatory syndrome. The suggested treatment include pain killers and soft shoes with soft insoles inside and mild elevation.
78-year-old male was diagnosed with possible mild Alzheimer’s disease. Medical history suggests a condition running a slow but steadily deteriorating course characterized by apathy as well as by impairment of memory, word finding difficulties and reduced vocabulary, impaired ability to make calculation and handle finances and difficulties in managing house work and going outside unsupervised. An episode with characteristics of delirium in the past is described as well. The neuropsychological evaluation describes moderate dementia.
41-year-old female noticed some decrease in her vision and was diagnosed with Retinitis Pigmentosa. The progression of her disease is slow but visual fields showed contraction and loss of peripheral vision in both eyes.
5-year-old boy was diagnosed with neurofibromatosis type 1 (NF1) eight months after birth. He has displayed café-au-lait spots, axillary freckling, macrocephaly, sphenoid dysplasia, brain hamartomas, right temporal arachnoid cyst, and optic glioma. Visual evoked potentials showed evidence of bilateral functional deficit.
52-year-old male with no relevant past medical history. An ultrasound of his urinary system diagnosed a space occupying lesion in the left kidney. Further investigation with abdominal CT demonstrated a nonhomogenous solid mass with dimensions of 4X2.7cm located at the lateral aspect of the lower pole of the kidney. After administration of contrast media it enhances. The specialist determined “incidental diagnosis of left renal neoplasia" and recommended to carry out a lesion enucleoresection. Partial/ radical nephrectomy surgery was scheduled.
78-years-old male with poorly differentiated hormone resistant prostate cancer. The expert recommends treatment with Ketoconazole as a "second line" hormonal treatment, together with LHRH agonist that he currently takes.
57-year-old male with a history of high myopia with subsequent macular neovascularization. His left eye became affected requiring krypton laser treatment and the right eye recently suffered similar neovascularization. He received PDT treatment, but continues to experience progressive symptoms of metamorphopsia and difficulty reading.
28-year old female had a sudden visus decrease. Her brain MRI showed several myelin lesions and she was diagnosed with Inflammatory Demyelinizing Disease. Because of her Hodgkin’s lymphoma history it is recommended to implement preventive therapy only if another episode consistent with MS will occur.
81-year-old male that suffers from mixed incontinence with a prominent component of stress incontinence, following a transurethral procedure. Initially attempts were made to gain continence by a Lenzi's procedure, electro stimulation and various anticholinergis. All in all without satisfactory response. He underwent implantation of an artificial sphincter, the AMS AS 800 (AUS) that provided continence and the patient was content with the end result. The AUS was functioning fine until the patient underwent a road accident trauma, then a sphinteric prosthesis malfunction occurred.
36-year-old otherwise healthy female underwent routine tests that found atypical cells in Pap smear. Her cervix was biopsied, and found poorly differentiated neuroendocrine carcinoma. The findings of the PET-FDG test showed pathological absorption of FDG as a primary tumor of the cervix, towards the left side of the body. Moreover, evidence is seen of nodal metastatic spread in the retroperitoneum and pelvis. In the expert's opinion the patient has locally extensive small cell neuroendocrine carcinoma of the cervix with extensive pelvic and PA adenopathy.
82-year-old female with severe osteoporosis manifests with vertebral fractures. During treatment with Risedronate, she suffered another fracture. In the expert's opinion, taking into account the patient's age, the presence of fractures and low BMD, the patient is at a very high risk to develop a recurrent fracture so treatment must be given. The expert recommends to rule out secondary causes for osteoporosis such as vitamin D deficiency, to keep a healthy as possible way of life, and change the treatment with Risedronate to Forteo (Teriparatide).
