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PubMed2003

Right congenital diaphragmatic hernia a well-known pathology?

In right congenital diaphragmatic hernia (RCDH), several clinical diagnostic pitfalls are possible and should be known to those caring for infants and children with this disorder. The records of the 18 patients at Hotel Dieu de France Hospital with a history of CDH between 1990 and 1999 were collected; those of the ten who had a RCDH were reviewed retrospectively. The mean age at diagnosis was 6 months; the male-to-female ratio was 2:3. The delay between the first symptom and the diagnosis ranged between 0 and 10.5 months (mean 4.5 months). An acute presentation was observed in four cases, consisting of respiratory distress in three; the 4th presented with gastric volvulus and intestinal obstruction. The presenting symptoms were mild in four cases; recurrent respiratory infections in three and failure to thrive in one. The diagnosis was incidental in two cases during the evaluation of respiratory symptoms attributed to an atrial septal defect. The radiologic findings provided by a chest radiograph (CxR) were sufficient to make an accurate diagnosis in eight cases and peritoneography was useful in one. In six cases, the presenting CxR had been misinterpreted as normal or acute lobar pneumonia. Pathologic findings at surgery consisted of lateral and posterior right diaphragmatic defects in nine cases; the defect was lateral and anterior in one. A hernia sac was found in seven cases; malrotation was present in three. Surgical correction was done by an abdominal approach in nine cases and a thoracic approach in one. The diaphragmatic defect was repaired by transverse closure in six cases, diaphragm plication in three and prosthetic closure in one. The postoperative outcome was uneventful in eight cases. Two patients died. Thus, RCDH seems to cause less severe symptoms than left-sided LCDH. It usually manifests beyond the neonatal period as respiratory or gastrointestinal symptoms. The diagnosis should be made easily by a CxR. The presence of a hernia sac correlated with a mild presentation. An abdominal surgical approach is preferred.

Female↗

PubMed1975

The ultrastructure of a characteristic spermhead-defect in the boar: the SME-defect.

Semen samples from an eight-month-old landrace boar showing poor sperm motility were investigated at the boars' arrival to an A.I. centre. Sperm morphology was found abnormal in +/- 30% of the sperm heads, which contained a rounded, often circular hypochromatic body (eosin-nigrosin stain) about 2 mum in diameter. The body was located in the front half of the sperm head, i.e. within the region of the acrosomal cap. Later a similar defect (+/- 50%) was found in an imported 2 1/2-year-old Yorkshire boar with decreased fertility. Electron microscopy of ejaculates and testis tissue showed that the hypochromatic body was a cyst containing a body of variable size but of moderate electron density. Usually the cyst was located within the nucleus and sometimes with direct communication to the acrosonal system. During spermiogenesis the abnormal spermids may show a deep invagination into the nucleus of the acrosomal granule. Inbreeding experiments are planned in order to determine if a possible hereditary factor is involved in the defect.

Animals↗

PubMed1976

Reconstruction of the ala nasi and the lateral wall of the nose.

With reference to the functional importance of the vestibular region, it is recommended that only such operative methods should be practiced for the reconstruction of the ala nasi as take into account the aerodynamics of the vestibular region. The reconstruction of the cartilaginous infrastructure should therefore be an integrading component of the ala replacement. Various possibilities for the fulfilling of these requirements are pointed out and a pedicled septal mucosa-skin-cartilage flap described by the author which, in conjunction with a frontal skin flap permits the repair of the ala nasi in a shorter time is described in more detail. For the treatment of defects of the lateral nasal wall, in addition to the insular flap operation from the nasolabial region and the forehead, the medial frontal flap technique as described by Kazanjian is particularly recommended. This method is also suitable very particularly for closure of perforating defects in conjunction with the split skin graft.

Humans↗

PubMed1990

[Surgical treatment of suppurative axillary hidradenitis: value of a musculocutaneous island flap of the latissimus dorsi. Apropos of 3 cases].

We report our experience of the surgical management of severe, extensive, medically intractable axillary Hidradenitis suppurativa in three male patients. Under general anaesthesia, all patients underwent large, deep and full excision of the disease prone areas, i. e. zones of apocrine sweat gland distribution and not only of the skin involved at the time of surgery, for the best possible prevention of recurrence. The operation was bilateral in two patients and unilateral in one. In all cases closure was achieved using the latissimus dorsi flap technique. In the two patients with bilateral lesions surgery was carried out in two steps at about two months' interval. At present, after a follow-up of about two years, none of the patients have relapsed and their shoulder mobility is perfectly preserved with a normal abduction allowed by the total absence of axillary scar contracture. The latissimus dorsi flap technique consists of transplanting into the recipient's axillary defect the pedicellated lateral margin of the latissimus dorsi muscle with (2 patients) or without (1 patient) a cover of attached skin palette vascularized by the underlying muscle tissue. Mainly used hitherto for reconstructive mammary surgery, this technique perfectly fits axillary diseases, such as Hidradenitis suppurativa, which can only be cured by creating wide surgical skin defects. It is particularly reliable: covering of the defect is easy and the immediate muscle interposition effectively protects the otherwise widely exposed neurovascular pedicle. The need for a skin palette cover associated with the latissimus dorsi flap is discussed.

Adult↗

PubMed1991

Diagnosis of recurrent rupture of interventricular septum during acute myocardial infarction by Doppler color flow mapping.

This report presents a 60-year-old female who had acute anteroseptal myocardial infarction and a grade 3/6 pansystolic murmur at left lower sternal border. Color Doppler echocardiographic examination revealed the presence of a ventricular septal defect which was later confirmed by contrast left ventriculography and at the time of operation. Urgent operation with closure of ventricular septum was performed and the cardiac murmur disappeared. One day after operation a grade 3/6 pansystolic murmur at left lower sternal border was heard and hypotension was noted. Color Doppler echocardiographic examination demonstrated another ventricular septal defect. The patient underwent re-operation due to hemodynamic instability. At operation, a new ventricular septal defect was noted while the previous patch was intact.

Echocardiography, Doppler↗

PubMed1998

Clinical evaluation of bioactive glass in the treatment of periodontal osseous defects in humans.

The purpose of this study was to compare the use of bioactive glass to demineralized freeze-dried bone allograft (DFDBA) in the treatment of human periodontal osseous defects. Fifteen systemically healthy patients (6 males and 9 females, aged 30 to 63) with moderate to advanced adult periodontitis were selected for the study. All patients underwent initial therapy, which included scaling and root planing, oral hygiene instruction, and an occlusal adjustment when indicated, followed by re-evaluation 4 to 6 weeks later. Paired osseous defects in each subject were randomly selected to receive grafts of bioactive glass or DFDBA. Both soft and hard tissue measurements were taken the day of surgery (baseline) and at the 6-month re-entry surgery. The clinical examiner was calibrated and blinded to the surgical procedures, while the surgeon was masked to the clinical measurements. Statistical analysis was performed by using the paired Student's t test. The results indicated that probing depths were reduced by 3.07 +/- 0.80 mm with the bioactive glass and 2.60 +/- 1.40 mm with DFDBA. Sites grafted with bioactive glass resulted in 2.27 +/- 0.88 mm attachment level gain, while sites grafted with DFDBA had a 1.93 +/- 1.33 mm gain in attachment. Bioactive glass sites displayed 0.53 +/- 0.64 mm of crestal resorption and 2.73 mm bone fill. DFDBA-grafted sites experienced 0.80 +/- 0.56 mm of crestal resorption and 2.80 mm defect fill. The use of bioactive glass resulted in 61.8% bone fill and 73.33% defect resolution. DFDBA-grafted defects showed similar results, with 62.5% bone fill and 80.87% defect resolution. Both treatments provided soft and hard tissue improvements when compared to baseline (P < or = 0.0001). No statistical difference was found when comparing bioactive glass to DFDBA; however, studies with larger sample sizes may reveal true differences between the materials. This study suggests that bioactive glass is capable of producing results in the short term (6 months) similar to that of DFDBA when used in moderate to deep intrabony periodontal defects.

Adult↗

PubMed2002

Gap junction proteins expressed during development are required for adult neural function in the Drosophila optic lamina.

We provide evidence that gap junction proteins, expressed during development, are necessary for the formation of normally functioning connections in the Drosophila optic lamina. Flies with mutations in the gap junction genes (innexins), shakingB, and ogre have normal photoreceptor potentials but a defective response of the postsynaptic cells in the optic lamina. This is indicated by a reduction in, or absence of, transients in the electroretinogram. Ogre is required in the presynaptic retinal photoreceptors. ShakingB(N) is, at a minimum, required in postsynaptic lamina neurons. Transgenic expression of the appropriate innexins during pupal development (but not later) rescues connection defects. Transient gap junctions have been observed to precede chemical synapse formation and have been hypothesized to play a role in connectivity and synaptogenesis; however, no causal role has been demonstrated. Here we show that developmental gap junction genes can be required for normally functioning neural connections to form.

Animals↗

PubMed1986

[Skin aplasia of the trunk in the newborn. Apropos of 2 cases].

Report of two cases of truncular dermoepidermal skin defect in newborn. The defect concerned the lateral thoracoabdominal area, on both sides of the umbilicus, jointed with a fine linear communication, and have the classical butterfly wind-like shape. Recovery was achieved by centripetal spontaneous cicatrization, only managed with protective vitamin dressing, in about 45 days. There was no clinical evidence of other anomaly. In this occasion, an exhaustive review of congenital skin defects is done. This disease is not frequent, 500 cases are published, principally in the scalp area (vertex). Thoracoabdominal localisation (10%) are symmetrical, spontaneously healing without surgery, in spite of a large defect. Skin defect of extremities (25% of cases) have also a good issue, except in case of associated congenital diseases; on the other hand scalp defects are sometimes complicated with sepsis or bleeding. Discussion emphasize the characteristics of skin defects, the possible pathological association (rare in case of thoracoabdominal defect) and pathogenic hypothesis, not yet definite at all.

Abdomen↗

PubMed2000

Retinoic acid enhances the effect of collagen on bone union, following induced non-union defect in guinea pig ulna.

OBJECTIVE AND DESIGN: The aim of the present study is to evaluate the involvement of retinoic acid and collagen in wound healing, by combining them in a therapeutic modality for treating a non-union bone defect in a guinea-pig ulnar-bone model. METHODS: a 4-mm disc was excised from the guinea-pig's ulnar-bone, and the space formed between the two ulnar fragments was filled with either collagen solution, retinoic acid solution or a combination of both. The guinea-pigs were sacrificed 2 or 6 weeks later, and the defected ulnar bones were studied by X-ray, by histology and by computerized histomorphometry. RESULTS: After 6 weeks, the long bone area fraction within the histological sections of the bone, was increased after treatment with this mixture by 180%, as compared to the untreated controls. The cartilage area in those sections was decreased by 44% after the combined treatment, as compared to increases of 133% and 182% following treatments with collagen alone. CONCLUSION: These findings demonstrate that addition of 500 IU of retinoic acid to collagen at a site of a bone defect, is superior to either agent in enhancing regeneration of new bone, achieving union across the defect and leading to its complete repair.

Animals↗

PubMed1997

Chewing-induced visual impairment from a dumbbell dermoid cyst.

A 29-year-old woman presented with a 1-year history of blurred vision in her left eye while chewing. Examination revealed a rubbery mass with ill-defined borders in the superotemporal brow region. Imaging studies demonstrated a cystic lesion extending from the temporal fossa into the orbit through a bony defect in the lateral orbital wall, assuming a dumbbell configuration. Histopathology of the excised specimen confirmed the clinical diagnosis of a dermoid cyst of cutaneous origin. We believe that the patient's visual disturbance was caused by transient displacement of orbital contents by the dermoid cyst as it was compressed into the orbit during mastication. Dermoid cysts are frequently associated with bony defects, which may require preoperative imaging and may produce unexpected symptoms.

Adult↗

PubMed1986

Postburn serum inhibits in vitro production of colony-stimulating factor by mononuclear peripheral blood cells.

The effects of postburn serum (PBS) on the production of colony-stimulating factor (CSF) was evaluated in 13 burned patients by adding PBS to normal peripheral blood mononuclear cells (MNC) and assaying the MNC-conditioned media for CSF content. PBS inhibited CSF production by at least 50%. PBS from non-survivors significantly inhibited CSF production more than PBS from survivors. The addition of lithium chloride restored production of CSF in the presence of day 15 PBS but could not overcome the inhibitory effects of day 1 or day 8 PBS. The nature of the inhibitor(s) is uncertain, but correction of the CSF production defect by lithium chloride later in the course of thermal injury suggests that the defect may be reversible.

Adult↗

PubMed1993

In vitro construction of cells-containing implants for articular cartilage regeneration.

Regeneration of destroyed articular cartilage can be induced by transplantation of cartilage cells into the defects. The best results are obtained by the use of either fetal allogeneic cells or autogenic ones. Induction of chondrogenesis in residual mesenchymal cells is optimal for obtaining large amounts of autogenic chondrocytes. Further modification of the technique is needed to reconstruct large defects. The cells are grown on biodegradable scaffolds and are later implanted into joint defects.

Animals↗

PubMed1997

Resurfacing of the donor defect after wrap-around toe transfer with a free lateral forearm flap.

In thumb reconstruction, the wrap-around free flap has many advantages; however, delayed wound healing, pain, and skin ulcerations at the donor site can be a problem. In 5 patients, a free lateral forearm fasciocutaneous flap was successfully used for immediate resurfacing of the donor defect of the big toe during wrap-around procedures. This flap was selected after preliminary anatomic studies that showed that it could be safely raised if based on the anterior terminal division of the posterior radial collateral artery. The average follow-up period was 2 years. The time required for healing of the great-toe defect was less than 1 month. All patients were satisfied with the outcome of the procedure. The skin of this flap is very pliable and thin, and the subcutaneous tissue is about half the thickness of that of the lateral arm flap. This technique is especially indicated for closure of moderate to big skin defects at the great-toe level, whenever a larger than usual amount of skin is required, during wrap-around procedures for thumb reconstruction.

Adolescent↗

PubMed1988

The neuroexcitotoxic amino acids glutamate and aspartate are altered in the spinal cord and brain in amyotrophic lateral sclerosis.

Because recent studies showed a systemic defect in glutamate metabolism in amyotrophic lateral sclerosis (ALS), we measured the levels of free amino acids in frontal and cerebellar cortex and two areas of spinal cord obtained at autopsy from 22 patients who died of this disease. Glutamate levels were significantly decreased (by 21 to 40% of control values) in all areas investigated; cervical and lumbar spinal cord showed the greatest change. Aspartate levels were also significantly reduced (by 32 to 35%) in the spinal cord only. A positive correlation was shown between the changes of glutamate and aspartate as well as a significant alteration in the glutamate to glutamine ratio in the spinal cord of patients with ALS. Although we cannot exclude the possibility that these abnormalities may partly result from neuronal cell loss, the data suggest the presence of a generalized defect that may affect the neurotransmitter and metabolic pool of glutamate. The defect may be expressed more severely in the spinal cord than in other central nervous system areas. These results, taken together with the previously shown systemic abnormality, raise the possibility that distribution of glutamate between the intracellular and extracellular pool may be altered in ALS and may mediate the neurodegeneration.

Aged↗

PubMed1995

Effect of late postoperative atrial septal defect closure on hemodynamic function in patients with a Lateral tunnel Fontan procedure.

OBJECTIVES: The aim of this study was to evaluate prospectively the effect of late atrial septal defect closure on cardiac output and oxygen delivery in patients who have undergone the Fontan procedure. BACKGROUND: An adjustable atrial septal defect is incorporated in patients undergoing the Fontan procedure who have increased pulmonary vascular resistance or poor ventricular function, or both. After the Fontan procedure, the atrial septal defect is test occluded. Patients with mean right atrial and pulmonary artery pressures > 15 mm Hg are discharged with the atrial septal defect open. METHODS: Twelve patients (20 months to 12 years old) underwent evaluation and closure of the atrial septal defect at a mean interval of 3.8 months (range 1 to 18) after the Fontan procedure. Each patient underwent full right and left heart catheterization. Cardiac output was obtained using the cine-volume method. The study included six patients with a high transpulmonary gradient or poor ventricular function preoperatively, or both (high risk group) and six who had only borderline increased pulmonary vascular resistance (low risk group). Patients in both groups had a mean right atrial pressure > 15 mm Hg when the atrial defect was test occluded in the first week after the Fontan procedure. RESULTS: All results are given as mean value +/- SD. Ventricular end-diastolic pressure was significantly lower (p = 0.03) with the atrial septal defect open in low risk patients (6 +/- 3 mm Hg) than in high risk patients (10 +/- 3 mm Hg). With the atrial septal defect open, low risk patients had a significantly higher (p = 0.04) cardiac index (4.87 +/- 0.81 liters/min per m2) than the high risk patients (3.96 +/- 0.47 liters/min per m2). There was no significant difference (p = 0.14) in cardiac index between the two groups with occlusion of the atrial septal defect. Oxygen delivery was also significantly higher (p < 0.05) with the atrial septal defect open in low risk patients (836 +/- 99 ml/min per m2) than in high risk patients (704 +/- 106 ml/min per m2). There was no significant difference (p = 0.89) in oxygen delivery between the two groups with occlusion of the atrial septal defect. With the atrial septal defect open, the interatrial gradient was not significantly different in low risk patients (4 +/- 1 mm Hg) from that in high risk patients (4 +/- 1 mm Hg). CONCLUSIONS: These data show that an interatrial communication results in increased postoperative systemic perfusion and oxygen delivery in patients with good diastolic ventricular function after the Fontan procedure.

Atrial Function↗

PubMed2000

Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.

In 1972, Valentine et al described, under the name of 'non-spherocytic haemolytic anaemia, high red cell ATP and ribose phosphate pyrophosphokinase (RPK; EC 2.7.6.1) deficiency', an obscure congenital haemolytic anaemia with the characteristic feature of red blood cell basophilic stippling. The activity of Embden-Meyerhof pathway and hexose monophosphate shunt were normal, and the concentrations of reduced glutathione and of ATP were raised 2 SD above the normal mean. The low values of RPK also encountered were considered to be an epiphenomenon rather than a causative defect. One year later, further studies performed in two new kindreds with the same haemolytic disorder associated with persistent basophilic stippling were described under the name of 'haemolytic disorders associated with increased ATP'. In 1974, two new and important observations contributed to the final identification of the disease: the patients' red blood cells (RBCs) contained large amounts of nucleotides (pyrimidine nucleotides), and in all cases they were deficient in a hitherto unrecognized enzyme called pyrimidine 5' nucleotidase (P5N). In conclusion, all these cases were formerly referred to as 'high ATP syndromes' because of the erroneous assumption that the large number of nucleotides within deficient RBCs were adenine phosphate rather than pyrimidine phosphate. Twenty-five years after its description, P5N deficiency has been reported in about 35 unrelated families from different parts of the world, and it has become one commonly identified cause of hereditary non-spherocytic haemolytic anaemia due to RBC enzymopathy. Genetic transmission is via the autosomic recessive mode, and only homozygous or compound heterozygous are clinically affected. Family members who are biochemically heterozygous are haematologically normal and difficult to detect. Unfortunately, the precise gene mutation or mutations causing the disease remain unknown.

5'-Nucleotidase↗

PubMed1987

Spontaneous cerebrospinal fluid otorrhea.

Spontaneous cerebrospinal fluid (CSF) otorrhea is rare. We present four new cases and an analysis of the literature. Two distinct subtypes occur. Seventy-two percent of cases are the childhood type with congenital defects of the otic capsule. Meningitis, usually pneumococcal and frequently recurrent, occurs in 92% of these cases. CSF otorrhea follows myringotomy for a presumed serous effusion. The child usually has unilateral and sometimes bilateral absence of cochlear and vestibular function and commonly exhibits a Mondini deformity. CSF usually enters the inner ear through a dural defect in the lateral aspect of the internal auditory canal and exists through the oval window. Treatment should consist of stapedectomy and packing of the vestibule with muscle or subtotal petrosectomy. Twenty-eight percent of cases of spontaneous CSF otorrhea are the adult type characterized by bony dehiscenses, most commonly of the tegmen tympani or tegmen mastoideum and less commonly of the posterior fossa plate. The meningeal defects are either meningoencephaloceles or simply holes in the dura. Therapy should consist of a mastoidectomy in conjunction with a transtemporal supralabyrinthine (middle fossa) approach if a meningoencephalocele of the tegmen is found.

Adolescent↗

PubMed1980

[Lateral pharyngeal pouches (author's transl)].

Lateral pharyngeal "pouches" in young men are described. They are not to be confused with true laryngeal cells as often mentioned in the literature. The radiographic diagnostic of the pharyngeal "pouches" after barium swallow together with the Valsalva test is demonstrated in review of the own casuistic. Increased intraluminal pressure caused by instrument- and glassblowers may be an etiologic factor as well as an acquired defect in the lateral pharyngeal wall.

Adult↗